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
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
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
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
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
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
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