Works matching IS 10597794 AND DT 1998 AND VI 11 AND IP 2

Results: 12

Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours.

Published in:

Human Mutation, 1998, v. 11, n. 2, p. 114, doi. 10.1002/(SICI)1098-1004(1998)11:2<114::AID-HUMU3>3.0.CO;2-J

By:

Homfray, TFR;
Cottrell, SE;
Ilyas, M;
Rowan, A;
Talbot, IC;
Bodmer, WF;
Tomlinson, IPM

Publication type:

Article

Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.

Published in:

Human Mutation, 1998, v. 11, n. 2, p. 145, doi. 10.1002/(SICI)1098-1004(1998)11:2<145::AID-HUMU7>3.0.CO;2-I

By:

Kalinsky, Hagar;
Funes, Adina;
Zeldin, Alina;
Pel-Or, Yehuda;
Korostishevsky, Misha;
Gershoni-Baruch, Ruth;
Farrer, Lindsay A.;
Bonne-Tamir, Batsheva

Publication type:

Article

A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.

Published in:

Human Mutation, 1998, v. 11, n. 2, p. 179, doi. 10.1002/(SICI)1098-1004(1998)11:2<179::AID-HUMU12>3.0.CO;2-W

By:

Gerull, Brenda;
Osterziel, Karl-Josef;
Witt, Christian;
Dietz, Rainer;
Thierfelder, Ludwig

Publication type:

Article

Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat.

Published in:

Human Mutation, 1998, v. 11, n. 2, p. 109, doi. 10.1002/(SICI)1098-1004(1998)11:2<109::AID-HUMU2>3.0.CO;2-E

By:

Yamamoto, Masahiko;
Keller, Marcel P.;
Yasuda, Takeshi;
Hayasaka, Kiyoshi;
Ohnishi, Akio;
Yoshikawa, Hiroo;
Yanagihara, Takehiko;
Mitsuma, Terunori;
Chance, Phillip F.;
Sobue, Gen

Publication type:

Article

Population genetic diversity in relation to microsatellite heterogeneity.

Published in:

Human Mutation, 1998, v. 11, n. 2, p. 135, doi. 10.1002/(SICI)1098-1004(1998)11:2<135::AID-HUMU6>3.0.CO;2-I

By:

Brinkmann, B;
Junge, A;
Meyer, E;
Wiegand, P

Publication type:

Article

A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene.

Published in:

Human Mutation, 1998, v. 11, n. 2, p. 175, doi. 10.1002/(SICI)1098-1004(1998)11:2<175::AID-HUMU11>3.0.CO;2-W

By:

Straughen, Joel E.;
Johnson, Juliana;
McLaren, Donna;
Proytcheva, Maria;
Ellis, Nathan;
German, James;
Groden, Joanna

Publication type:

Article

PAX6 mutations reviewed.

Published in:

Human Mutation, 1998, v. 11, n. 2, p. 93, doi. 10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M

By:

Prosser, Jane;
van Heyningen, Veronica

Publication type:

Article

Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from southern Italy.

Published in:

Human Mutation, 1998, v. 11, n. 2, p. 127, doi. 10.1002/(SICI)1098-1004(1998)11:2<127::AID-HUMU5>3.0.CO;2-G

By:

Pastore, Lucio;
Morte, Rossella Della;
Frisso, Giulia;
Alfinito, Fiorella;
Vitale, Domenico;
Calise, Rosa Maria;
Ferraro, Filomena;
Zagari, Adriana;
Rotoli, Bruno;
Salvatore, Francesco

Publication type:

Article

Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.

Published in:

Human Mutation, 1998, v. 11, n. 2, p. 158, doi. 10.1002/(SICI)1098-1004(1998)11:2<158::AID-HUMU9>3.0.CO;2-F

By:

Saarinen, Kirsi;
Swan, Heikki;
Kainulainen, Katariina;
Toivonen, Lauri;
Viitasalo, Matti;
Kontula, Kimmo

Publication type:

Article

DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.

Published in:

Human Mutation, 1998, v. 11, n. 2, p. 121, doi. 10.1002/(SICI)1098-1004(1998)11:2<121::AID-HUMU4>3.0.CO;2-M

By:

Timms, Kirsten M.;
Huckett, Louise E.;
Belmont, John W.;
Shapira, Stuart K.;
Gibbs, Richard A.

Publication type:

Article

Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).

Published in:

Human Mutation, 1998, v. 11, n. 2, p. 152, doi. 10.1002/(SICI)1098-1004(1998)11:2<152::AID-HUMU8>3.0.CO;2-L

By:

Malone, Geraldine;
Haworth, Andrea;
Schwarz, Martin J.;
Cuppens, Harry;
Super, Maurice

Publication type:

Article

Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.

Published in:

Human Mutation, 1998, v. 11, n. 2, p. 166, doi. 10.1002/(SICI)1098-1004(1998)11:2<166::AID-HUMU10>3.0.CO;2-X

By:

Andersen, Tone Ikdahl;
Eiken, Hans Geir;
Couch, Fergus;
Kaada, Grete;
Skrede, Martina;
Johnsen, Hilde;
Aloysius, Thomas A.;
Tveit, Kjell M.;
Tranebjærg, Lisbeth;
Dørum, Anne;
Møller, Pål;
Weber, Barbara L.;
Børresen-Dale, Anne-Lise

Publication type:

Article