Works matching IS 10597794 AND DT 1998 AND VI 11

Results: 205

Missense mutation in exon 11 (codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 481, doi. 10.1002/(SICI)1098-1004(1998)11:6<481::AID-HUMU13>3.0.CO;2-N

By:

Besançon, Roger;
Lorenzi, Alberta;
Cruts, Marc;
Radawiec, Sandrine;
Sturtz, Franck;
Broussolle, Emmanuel;
Chazot, Guy;
Broeckhoven, Christine Van;
Chamba, Geneviève;
Vandenberghe, Antoon

Publication type:

Article

A new informative Alw 26 I polymorphism in exon 10 of the human low density lipoprotein receptor gene. Application to prenatal diagnosis.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 483, doi. 10.1002/(SICI)1098-1004(1998)11:6<483::AID-HUMU17>3.0.CO;2-5

By:

Kottler, Marie-Laure;
Lagarde, Jean Pierre;
Dahan, Karin;
Zekraoui, Leila;
Raisonnier, Alain

Publication type:

Article

Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 443, doi. 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S

By:

Kumar, Shrawan;
Kimberling, William J.;
Weston, Michael D.;
Schaefer, Bradley G.;
Berg, Mary Anne;
Marres, Henri A. M.;
Cremers, Cor W. R. J.

Publication type:

Article

Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 470, doi. 10.1002/(SICI)1098-1004(1998)11:6<470::AID-HUMU8>3.0.CO;2-A

By:

Freson, Kathleen;
Peerlinck, Kathelijne;
Aguirre, Tania;
Arnout, Jef;
Vermylen, Jozef;
Cassiman, Jean-Jacques;
Matthijs, Gert

Publication type:

Article

A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 481, doi. 10.1002/(SICI)1098-1004(1998)11:6<481::AID-HUMU12>3.0.CO;2-Q

By:

Yamagishi, Hiroyuki;
Furutani, Michiko;
Kamisago, Mitsuhiro;
Morikawa, Yoshiyuki;
Kojima, Yoshifumi;
Hino, Yoshiaki;
Furutani, Yoshiyuki;
Kimura, Misa;
Imamura, Shin-ichiro;
Takao, Atsuyoshi;
Momma, Kazuo;
Matsuoka, Rumiko

Publication type:

Article

Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 482, doi. 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU16>3.0.CO;2-B

By:

Holmberg, Mari;
Kristo, Paula;
Chadwicks, Robert B.;
Mecklin, Jukka-Pekka;
Järvinen, Heikki;
de la Chapelle, Albert;
Nyström-Lahti, Minna;
Peltomäki, Päivi

Publication type:

Article

W474C amino acid substitution affects early processing of the α-subunit of β-hexosaminidase A and is associated with subacute GM2 gangliosidosis.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 432, doi. 10.1002/(SICI)1098-1004(1998)11:6<432::AID-HUMU3>3.0.CO;2-Z

By:

Petroulakis, Emmanuel;
Cao, Zhimin;
Clarke, Joe T. R.;
Mahuran, Don J.;
Lee, Gregory;
Triggs-Raine, Barbara

Publication type:

Article

Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 461, doi. 10.1002/(SICI)1098-1004(1998)11:6<461::AID-HUMU7>3.0.CO;2-F

By:

Richard, Catherine;
Tranchemontagne, Julie;
Elsliger, Marc-André;
Mitchell, Grant A.;
Potier, Michel;
Pshezhetsky, Alexey V.

Publication type:

Article

A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: An unexpected absence of exon skipping.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 480, doi. 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU11>3.0.CO;2-W

By:

Maruyama, Takao;
Miyake, Yasuko;
Yamamura, Taku;
Tajima, Shoji;
Funahashi, Tohru;
Matsuzawa, Yuji;
Yamamoto, Akira

Publication type:

Article

Two novel mutations in exon 11 of the PAH gene (V1163 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 482, doi. 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E

By:

Mallolas, Judith;
Campistol, Jaume;
Lambruschini, Nilo;
Vilaseca, Maria Antònia;
Cambra, F. José;
Estivill, Xavier;
Milà, Montserrat

Publication type:

Article

Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutations.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 424, doi. 10.1002/(SICI)1098-1004(1998)11:6<424::AID-HUMU2>3.0.CO;2-2

By:

Pollock, Pamela M.;
Spurr, Nigel;
Bishop, Tim;
Newton-Bishop, Julia;
Gruis, Nelleke;
van der Velden, Pieter A.;
Goldstein, Alisa M.;
Tucker, Margaret A.;
Foulkes, William D.;
Barnhill, Ray;
Haber, Daniel;
Fountain, Jane;
Hayward, Nicholas K.

Publication type:

Article

Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF).

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 456, doi. 10.1002/(SICI)1098-1004(1998)11:6<456::AID-HUMU6>3.0.CO;2-G

By:

Chen, Xiaoguang;
Fischel-Ghodsian, Nathan;
Cercek, Andrea;
Hamon, Melanie;
Ogur, Gonul;
Lotan, Rona;
Danon, Yehuda;
Shohat, Mordechai

Publication type:

Article

Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 480, doi. 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU10>3.0.CO;2-Z

By:

de Meeus, Anne;
Guittard, Caroline;
Desgeorges, Marie;
Carles, Soukeyna;
Demaille, Jacques;
Claustres, Mireille

Publication type:

Article

Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 482, doi. 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU14>3.0.CO;2-H

By:

Arredondo-Vega, FX;
Santisteban, I;
Notarangelo, LD;
Dahr, J. El;
Buckley, R;
Roifman, C;
Conley, ME;
Hershfield, MS

Publication type:

Article

Molecular basis of type III hyperlipoproteinemia in Germany.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 417, doi. 10.1002/(SICI)1098-1004(1998)11:6<417::AID-HUMU1>3.0.CO;2-5

By:

Feussner, Giso;
Feussner, Vera;
Hoffmann, Michael M.;
Lohrmann, Jens;
Wieland, Heinrich;
März, Winfried

Publication type:

Article

Novel acceptor splice site mutation in the invariant AG of intron 6 of α-galactosidase A gene, causing Fabry disease.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 483, doi. 10.1002/(SICI)1098-1004(1998)11:6<483::AID-HUMU18>3.0.CO;2-2

By:

Matsumura, Takehiko;
Osaka, Hitoshi;
Sugiyama, Naoya;
Kawanishi, Chiaki;
Maruyama, Yasuko;
Suzuki, Kyoko;
Onishi, Hideki;
Yamada, Yoshiteru;
Morita, Mitsuya;
Aoki, Masashi;
Kosaka, Kenji

Publication type:

Article

A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 450, doi. 10.1002/(SICI)1098-1004(1998)11:6<450::AID-HUMU5>3.0.CO;2-P

By:

Young, Joanne;
Simms, Lisa A.;
Tarish, Jabbar;
Buttenshaw, Ron;
Knight, Ngaire;
Anderson, Gregory J.;
Bell, Andrew;
Leggett, Barbara

Publication type:

Article

Gorlin syndrome: Identification of 4 novel germ-line mutations of the human patched (PTCH) gene.

Published in:

Human Mutation, 1998, v. 11, n. 6, p. 480, doi. 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU9>3.0.CO;2-4

By:

Hasenpusch-Theil, Kerstin;
Bataille, Veronique;
Laehdetie, Jaana;
Obermayr, Franz;
Sampson, Julian R.;
Frischauf, Anna-Maria

Publication type:

Article

The 1396del a mutation and a missense mutation or a rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of an unusual vulvar cancer.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU18>3.0.CO;2-C

By:

Vidal, Véronique;
Bay, Jacques-Olivier;
Champomier, Françoise;
Grancho, Maria;
Beauville, Laurence;
Glowaczower, Cécile;
Lemery, Didier;
Ferrara, Marc;
Bignon, Yves-Jean

Publication type:

Article

Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 360, doi. 10.1002/(SICI)1098-1004(1998)11:5<360::AID-HUMU3>3.0.CO;2-U

By:

Zhang, Chunfang;
Liu, Vincent W. S.;
Addessi, Corrado L.;
Sheffield, David A.;
Linnane, Anthony W.;
Nagley, Phillip

Publication type:

Article

A novel mutation (V191G) in a German-British type 1 Gaucher disease patient.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 411, doi. 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU13>3.0.CO;2-X

By:

Choy, Francis Y. M.;
Humphries, M. Lisa;
Ben-Yoseph, Yoav

Publication type:

Article

Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 395, doi. 10.1002/(SICI)1098-1004(1998)11:5<395::AID-HUMU7>3.0.CO;2-4

By:

Sarafova, Adriana P.;
Choi, Hyeon;
Forlino, Antonella;
Gajko, Anna;
Cabral, Wayne A.;
Tosi, Laura;
Reing, C. Michael;
Marini, Joan C.

Publication type:

Article

Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU17>3.0.CO;2-F

By:

Cenarro, Ana;
Jensen, Henrik K.;
Casao, Elena;
Civeira, Fernando;
González-Bonillo, José;
Rodríguez-Rey, José C.;
Gregersen, Niels;
Pocoví, Miguel

Publication type:

Article

Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 354, doi. 10.1002/(SICI)1098-1004(1998)11:5<354::AID-HUMU2>3.0.CO;2-W

By:

De Lucca, Marisel;
Pérez, Belén;
Desviat, Lourdes R.;
Ugarte, Magdalena

Publication type:

Article

Identification of cystic fibrosis mutations in the United Arab Emirates.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1998)11:5<412::AID-HUMU15>3.0.CO;2-O

By:

Frossard, Philippe M.;
Girodon, Emmanuelle;
Dawson, Kenneth P.;
Ghanem, Nada;
Plassa, François;
Lestringant, Gilles G.;
Goossens, Michel

Publication type:

Article

Novel allele of the insulin receptor substrate-1 bearing two non-conservative amino acid substitutions in a patient with noninsulin-dependent diabetes mellitus.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 411, doi. 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU12>3.0.CO;2-#

By:

Mammarella, Sandra;
Creati, Beatrice;
Esposito, Diana L.;
Arcuri, Paola;
Della Loggia, Fulvio;
Capani, Fabio;
Mariani-Costantini, Renato;
Caramia, Felice Giacomo;
Battista, Pasquale;
Cama, Alessandro

Publication type:

Article

The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I

By:

Beesley, Clare E.;
Child, Anne H.;
Yacoub, Magdi H.

Publication type:

Article

Chemical cleavage of mismatch: A new look at an established method.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 345, doi. 10.1002/(SICI)1098-1004(1998)11:5<345::AID-HUMU1>3.0.CO;2-0

By:

Ellis, Timothy P.;
Humphrey, Karen E.;
Smith, Margaret J.;
Cotton, Richard G. H.

Publication type:

Article

Analysis of CpG C-to-T mutations in neurofibromatosis type 1.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 411, doi. 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU11>3.0.CO;2-2

By:

Krkljus, Sofia;
Abernathy, Corinne R.;
Johnson, Jennifer S.;
Williams, Charles A.;
Driscoll, Daniel J.;
Zori, Roberto;
Stalker, Heather J.;
Rasmussen, Sonja A.;
Collins, Francis S.;
Kousseff, Boris G.;
Baumbach, Lisa;
Wallace, Margaret R.

Publication type:

Article

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 377, doi. 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E

By:

Wataya, Kaoru;
Akanuma, Jun;
Cavadini, Patrizia;
Aoki, Yoko;
Kure, Shigeo;
Invernizzi, Federica;
Yoshida, Ichiro;
Kira, Jun-ichi;
Taroni, Franco;
Matsubara, Yoichi;
Narisawa, Kuniaki

Publication type:

Article

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 387, doi. 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8

By:

Scott, DA;
Kraft, ML;
Carmi, R;
Ramesh, A;
Elbedour, K;
Yairi, Y;
Srisailapathy, C. R. Srikumari;
Rosengren, SS;
Markham, AF;
Mueller, RF;
Lench, NJ;
Van Camp, G;
Smith, RJH;
Sheffield, VC

Publication type:

Article

Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU9>3.0.CO;2-Q

By:

Villani, Guglielmo R. D.;
Balzano, Nicola;
Di Natale, Paola

Publication type:

Article

Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU10>3.0.CO;2-8

By:

Norrgard, Karen J.;
Pomponio, Robert J.;
Swango, Katie L.;
Hymes, Jeanne;
Reynolds, Thomas;
Buck, Gregory A.;
Wolf, Barry

Publication type:

Article

Germline mutations in Peruvian patients with hemophilia B: Pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 372, doi. 10.1002/(SICI)1098-1004(1998)11:5<372::AID-HUMU4>3.0.CO;2-M

By:

Heit, John A.;
Thorland, Erik C.;
Ketterling, Rhett P.;
Lind, Tammy J.;
Daniels, Todd M.;
Zapata, Renee Eyzaguirre;
Ordonez, Saul Mendoza;
Kasper, Carol K.;
Sommer, Steve S.

Publication type:

Article

α-thalassaemia due to a single codon deletion in the α-1-globin gene. Computational structural analysis of the new α-chain variant.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1998)11:5<412::AID-HUMU14>3.0.CO;2-R

By:

Ayala, Sonia;
Colomer, Dolors;
Gelpí, Josep Lluís;
Corrons, Joan Lluís Vives

Publication type:

Article

Rapid, efficient method for multiplex amplification from filter paper.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 404, doi. 10.1002/(SICI)1098-1004(1998)11:5<404::AID-HUMU8>3.0.CO;2-S

By:

Caggana, Michele;
Conroy, James M.;
Pass, Kenneth A.

Publication type:

Article

Polymorphisms in the coding exons of the human luteinizing hormone receptor gene.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU19>3.0.CO;2-D

By:

Wu, Shao-Ming;
Jose, Maria;
Hallermeier, Karen;
Rennert, Owen M.;
Chan, Wai-Yee

Publication type:

Article

Seven novel mutations in mut methylmalonic aciduria.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 270, doi. 10.1002/(SICI)1098-1004(1998)11:4<270::AID-HUMU3>3.0.CO;2-T

By:

Adjalla, Charles E.;
Hosack, Angela R.;
Gilfix, Brian M.;
Lamothe, Estelle;
Sun, Sophie;
Chan, Adrian;
Evans, Stacey;
Matiaszuk, Nora V.;
Rosenblatt, David S.

Publication type:

Article

Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 295, doi. 10.1002/(SICI)1098-1004(1998)11:4<295::AID-HUMU7>3.0.CO;2-6

By:

Cormand, Bru;
Grinberg, Daniel;
Gort, Laura;
Chabás, Amparo;
Vilageliu, Lluïsa

Publication type:

Article

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 321, doi. 10.1002/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO;2-A

By:

Höglund, Pia;
Haila, Siru;
Gustavson, Karl-Henrik;
Taipale, Mikko;
Hannula, Katariina;
Popinska, Kataryna;
Holmberg, Christer;
Socha, Jerzy;
de la Chapelle, Albert;
Kere, Juha

Publication type:

Article

Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 334, doi. 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU21>3.0.CO;2-X

By:

Theophilus, Bimal D. M.;
Enayat, Mohammad S.;
Higuchi, Miyoko;
Kazazian, Haig H.;
Antonarakis, Stylianos E.;
Hill, Frank G. H.

Publication type:

Article

Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU14>3.0.CO;2-Y

By:

Wang, Q;
Verhoef, S;
Tempelaars, AMP;
Bakker, PLG;
Vrtel, R;
Hesseling-Janssen,, ALW;
Nellist, M;
Oranje, AP;
Stroink, H;
Lindhout, D;
Halley, DJJ;
van den Ouweland, AMW

Publication type:

Article

Detection of four novel mutations in the iduronate-2-sulfatase gene.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU18>3.0.CO;2-G

By:

Balzano, Nicola;
Villani, Guglielmo R. D.;
Grosso, Michela;
Izzo, Paola;
Natale, Paola Di

Publication type:

Article

Common ancestral mutations in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 264, doi. 10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V

By:

Olufemi, Shodimu-Emmanuel;
Green, Jane S.;
Manickam, Pachiappan;
Guru, Siradanahalli C.;
Agarwal, Sunita K.;
Kester, Mary Beth;
Dong, Qihan;
Burns, A. Lee;
Spiegel, Allen M.;
Marx, Stephen J.;
Collins, Francis S.;
Chandrasekharappa, Settara C.

Publication type:

Article

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 286, doi. 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B

By:

Gallione, Carol J.;
Klaus, Daniel J.;
Yeh, Eric Y.;
Stenzel, Timothy T.;
Xue, Yan;
Anthony, Kara B.;
McAllister, Kimberly A.;
Baldwin, Melanie A.;
Berg, Jonathan N.;
Lux, Andreas;
Smith, Joshua D.;
Vary, Calvin P. H.;
Craigen, William J.;
Westermann, CJJ;
Warner, Mary L.;
Miller, York E.;
Jackson, C. Eugene;
Guttmacher, Alan E.;
Marchuk, Douglas A.

Publication type:

Article

A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 334, doi. 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-#

By:

Donnelly, Andrew;
Haan, Eric;
Manson, James;
Mulley, John

Publication type:

Article

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU13>3.0.CO;2-0

By:

Sangiuolo, F;
Botta, A;
Mesoraca, A;
Servidei, S;
Merlini, L;
Fratta, G;
Novelli, G;
Dallapiccola, B

Publication type:

Article

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU17>3.0.CO;2-J

By:

Grigelioniené, G;
Hagenäs, L;
Eklöf, O;
Neumeyer, L;
Haereid, PE;
Anvret, M

Publication type:

Article

In vitro mutations in dihydrofolate reductase that confer resistance to methotrexate: Potential for clinical application.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 259, doi. 10.1002/(SICI)1098-1004(1998)11:4<259::AID-HUMU1>3.0.CO;2-W

By:

Blakley, Raymond L.;
Sorrentino, Brian P.

Publication type:

Article

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 279, doi. 10.1002/(SICI)1098-1004(1998)11:4<279::AID-HUMU5>3.0.CO;2-E

By:

Corden, Laura D.;
Mellerio, Jemima E.;
Gratian, Matthew J.;
Eady, Robin A. J.;
Harper, John I.;
Lacour, Marc;
Magee, Gareth;
Lane, E. Birgitte;
McGrath, John A.;
McLean, W. H. Irwin

Publication type:

Article