Works matching IS 10597794 AND DT 1995 AND VI 5 AND IP 4

Results: 18

Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT →TAG) at Tyr-40 in exon 2, (Y40X).

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 348, doi. 10.1002/humu.1380050415

By:

Soda, Hiroko;
Yukizane, Shigenori;
Yoshida, Ichiro;
Aramaki, Shuichi;
Kato, Hirohisa

Publication type:

Article

Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 318, doi. 10.1002/humu.1380050408

By:

Isoniemi, Annukka;
Hietala, Marja;
Aula, Pertti;
Jalanko, Anu;
Peltonen, Leena

Publication type:

Article

Somatic mutations in VNTR-Locus D1S7 in human colorectal carcinomas are associated with microsatellite instability.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 329, doi. 10.1002/humu.1380050410

By:

Hoff-Olsen, Per;
Meling, Gunn Iren;
Olaisen, Bjørnar

Publication type:

Article

Mutations in the Norrie disease gene.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 285, doi. 10.1002/humu.1380050403

By:

Schuback, Deborah E.;
Chen, Zheng Yi;
Craig, Ian W.;
Breakefield, Xandra O.;
Sims, Katherine B.

Publication type:

Article

Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 345, doi. 10.1002/humu.1380050414

By:

Choy, Francis Y. M.;
Wei, Chao

Publication type:

Article

African, Native American, and European mitochondrial DNAs in Cubans from Pinar del Rio Province and implications for the recent epidemic neuropathy in Cuba.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 310, doi. 10.1002/humu.1380050407

By:

Torroni, Antonio;
Brown, Michael D.;
Lott, Marie T.;
Newman, Nancy J.;
Wallace, Douglas C.

Publication type:

Article

Screening for mutations in factor VIII gene using the single-strand conformation polymorphism.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 357, doi. 10.1002/humu.1380050418

By:

Nafa, Khédoudja;
Meriane, Farida;
Chellali, Thouraya;
Benabadji, Mohamed;
Reghis, Abderrezak;
Viemont, Michèle;
Kaplan, Jean-Claude;
Delpech, Marc

Publication type:

Article

Molecular basis of dihydropteridine reductase deficiency.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 279, doi. 10.1002/humu.1380050402

By:

Smooker, Peter M.;
Cotton, Richard G. H.

Publication type:

Article

Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRT<sub>Isar</sub>): A further example of clinical heterogeneity in HPRT deficiencies.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 341, doi. 10.1002/humu.1380050413

By:

Burgemeister, R.;
Rötzer, E.;
Gutensohn, W.;
Gehrke, M.;
Schiel, W.

Publication type:

Article

Gaucher disease in Spanish patients: Analysis of eight mutations.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 303, doi. 10.1002/humu.1380050406

By:

Cormand, Bru;
Vilageliu, Lluïsa;
Burguera, José M.;
Balcells, Susana;
Gonzàlez-Duarte, Roser;
Grinberg, Daniel;
Chabás, Amparo

Publication type:

Article

A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 354, doi. 10.1002/humu.1380050417

By:

Touraine, Renaud-Laurian;
Rolland, Marie-Odile;
Divry, Priscille;
Mathieu, Monique;
Guibaud, Pierre;
Bozon, Dominique

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1995, v. 5, n. 4, p. fmi, doi. 10.1002/humu.1380050401
Publication type:: Article

Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(−) hereditary elliptocytosis.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 339, doi. 10.1002/humu.1380050412

By:

Garbarz, M.;
Devaux, I.;
Bournier, O.;
Grandchamp, B.;
Dhermy, D.

Publication type:

Article

Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 296, doi. 10.1002/humu.1380050405

By:

Hagemann, Tracy L.;
Rosen, Fred S.;
Kwan, Sau-Ping

Publication type:

Article

Spectrum of β-thalassemia mutations in the Gaza area.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 351, doi. 10.1002/humu.1380050416

By:

Filon, Dvora;
Oron, Varda;
Shawa, Ragda;
Elborno, Elham;
Najjar, Khamis;
Tulchinsky, Theodore;
Rachmilewitz, Eliezer;
Rund, Deborah;
Oppenheim, Ariella

Publication type:

Article

Analysis of β-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSINT 5 (G-C) mutation.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 327, doi. 10.1002/humu.1380050409

By:

De Leo, R.;
Deidda, G.;
Novelletto, A.;
El-Kalla, S.;
Mathews, A. R.;
Felicetti, L.

Publication type:

Article

A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 333, doi. 10.1002/humu.1380050411

By:

Wall, Jeff;
Cai, Shiping;
Chehab, Farid F.

Publication type:

Article

Mutations and polymorphisms in the human ornithine transcarbamylase gene: Mutation update addendum.

Published in:

Human Mutation, 1995, v. 5, n. 4, p. 293, doi. 10.1002/humu.1380050404

By:

Tuchman, Mendel;
Plante, Robert J.

Publication type:

Article