Volume 5; Issue 4

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Human Mutation
Volume 5; Issue 4

Human Mutation

Volume 5; Issue 4

1

Masthead

Journal:

Year:

1995

Language:

english

File:

PDF, 99 KB

english, 1995

2

Molecular basis of dihydropteridine reductase deficiency

Peter M. Smooker, Richard G. H. Cotton

Journal:

Year:

1995

Language:

english

File:

PDF, 498 KB

english, 1995

3

Mutations in the Norrie disease gene

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

Journal:

Year:

1995

Language:

english

File:

PDF, 1000 KB

english, 1995

4

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

Mendel Tuchman, Robert J. Plante

Journal:

Year:

1995

Language:

english

File:

PDF, 273 KB

english, 1995

5

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 845 KB

english, 1995

6

Gaucher disease in Spanish patients: Analysis of eight mutations

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

Journal:

Year:

1995

Language:

english

File:

PDF, 613 KB

english, 1995

7

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 757 KB

english, 1995

8

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 921 KB

english, 1995

9

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 175 KB

english, 1995

10

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

Per Hoff-Olsen, Gunn Iren Meling, Bjørnar Olaisen

Journal:

Year:

1995

Language:

english

File:

PDF, 696 KB

english, 1995

11

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

Jeff Wall, Shiping Cai, Farid F. Chehab

Journal:

Year:

1995

Language:

english

File:

PDF, 654 KB

english, 1995

12

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 257 KB

english, 1995

13

Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): A further example of clinical heterogeneity in HPRT deficiencies

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

Journal:

Year:

1995

Language:

english

File:

PDF, 332 KB

english, 1995

14

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

Francis Y. M. Choy, Chao Wei

Journal:

Year:

1995

Language:

english

File:

PDF, 311 KB

english, 1995

15

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 331 KB

english, 1995

16

Spectrum of β-thalassemia mutations in the Gaza area

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

Journal:

Year:

1995

Language:

english

File:

PDF, 262 KB

english, 1995

17

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 284 KB

english, 1995

18

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 498 KB

english, 1995