Works matching IS 10597794 AND DT 1998 AND VI 11 AND IP 6

Results: 18

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 G<sub>M2</sub> 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