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Volume 5; Issue 4
Main
Human Mutation
Volume 5; Issue 4
Human Mutation
Volume 5; Issue 4
1
Masthead
Journal:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 99 KB
Your tags:
english, 1995
2
Molecular basis of dihydropteridine reductase deficiency
Peter M. Smooker
,
Richard G. H. Cotton
Journal:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 498 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 1000 KB
Your tags:
english, 1995
4
Mutations and polymorphisms in the human ornithine transcarbamylase gene: Mutation update addendum
Mendel Tuchman
,
Robert J. Plante
Journal:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 273 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 845 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 613 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 757 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 921 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 175 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 696 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 654 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 257 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 332 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 311 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 331 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 262 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 284 KB
Your tags:
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:
Human Mutation
Year:
1995
Language:
english
File:
PDF, 498 KB
Your tags:
english, 1995
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