Volume 6; Issue 2

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Human Mutation
Volume 6; Issue 2

Human Mutation

Volume 6; Issue 2

1

Masthead

Journal:

Year:

1995

Language:

english

File:

PDF, 98 KB

english, 1995

2

Mutations in the estrogen receptor gene

Journal:

Year:

1995

Language:

english

File:

PDF, 674 KB

english, 1995

3

Mutational analysis of patients with X-linked adrenoleukodystrophy

Fernando Kok, Sylvia Neumann, Claude-Olivier Sarde, Siqun Zheng, Kuei-Hua Wu, He-Ming Wei, James Bergin, Paul A. Watkins, Stephen Gould, George Sack, Hugo Moser, Jean-Louis Mandel, Kirby D. Smith

Journal:

Year:

1995

Language:

english

File:

PDF, 1.12 MB

english, 1995

4

Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers-danlos type IV

Smita Thakker-Varia, David W. Anderson, Helena Kuivaniemi, Gerard Tromp, Hyeon-Gyu Shin, Michel van der Rest, Francis H. Glorieux, Leena Ala-kokko, Catherine A. Stolle

Journal:

Year:

1995

Language:

english

File:

PDF, 965 KB

english, 1995

5

Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation

Sylvie Tuffery, Uwe Lenk, Roland G. Roberts, Christine Coubes, Jacques Demaille, Mireille Claustres

Journal:

Year:

1995

Language:

english

File:

PDF, 947 KB

english, 1995

6

Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients

Kazuko Sukegawa, Shunji Tomatsu, Toshiyuki Fukao, Hideki Iwata, Xiang-Qian Song, Yukiji Yamada, Seiji Fukuda, Kouji Isogai, Tadao Orii

Journal:

Year:

1995

Language:

english

File:

PDF, 693 KB

english, 1995

7

Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reaction

Ping Fang, Stanley Bouma, Cynthia Jou, Julian Gordon, Arthur L. Beaudet

Journal:

Year:

1995

Language:

english

File:

PDF, 816 KB

english, 1995

8

Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain

Koichi Murono, Berenice B. Mendonca, Ivo J. P. Arnhold, Ana C. M. M. Rigon, Claude J. Migeon, Terry R. Brown

Journal:

Year:

1995

Language:

english

File:

PDF, 1008 KB

english, 1995

9

Allele-specific competitive blocker PCR: A one-step method with applicability to pool screening

Andreas Orou, Birgit Fechner, Gerd Utermann, Hans-Jürgen Menzel

Journal:

Year:

1995

Language:

english

File:

PDF, 609 KB

english, 1995

10

Identification of seven novel mutations associated with metachromatic leukodystrophy

Maria Luiza Barth, Anthony Fensom, Ann Harris

Journal:

Year:

1995

Language:

english

File:

PDF, 639 KB

english, 1995

11

High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients

Paula M. Gallagher, Pat Ward, Soon Tan, Eileen Naughten, Jan P. Kraus, Grant C. Sellar, David J. McConnell, Ian Graham, Alexander S. Whitehead

Journal:

Year:

1995

Language:

english

File:

PDF, 372 KB

english, 1995

12

A de novo duplication in the low density lipoprotein receptor gene

Maritha J. Kotze, Leonora Theart, Armand Peeters, Elzet Langenhoven

Journal:

Year:

1995

Language:

english

File:

PDF, 202 KB

english, 1995

13

A nonsense mutation in two German patients with fucosidosis

Hee-Chan Seo, Peter H. Heidemann, Erwin Lutz, John S. O'Brien

Journal:

Year:

1995

Language:

english

File:

PDF, 180 KB

english, 1995

14

New point mutation (R301X) of the α-galactosidase a gene causing fabry disease

Chiaki Kawanishi, Hitoshi Osaka, Ken Inoue, Hideki Onishi, Yoshiteru Yamada, Naoya Sugiyama, Kyoko Suzuki, Tokiji Hanihara, Tomohiro Miyagawa, Seiji Kimura, Susumu Kawamoto, Kenji Okuda, Kenji Kosaka

Journal:

Year:

1995

Language:

english

File:

PDF, 160 KB

english, 1995

15

Identification of two novel mutations in the cystic fibrosis gene: 1898 + 3A→C and 2711delT

B. Mercier, W. Lissens, M. P. Audrézet, M. Bonduelle, I. Quéré, P. Hilbert, I. Liebaers, C. Férec

Journal:

Year:

1995

Language:

english

File:

PDF, 165 KB

english, 1995

16

Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult

Marie-Catherine Romey, Marie Desgeorges, Patrice Ray, Philippe Godard, Jacques Demaille, Mireille Claustres

Journal:

Year:

1995

Language:

english

File:

PDF, 174 KB

english, 1995

17

Mutation Analysis of phenylketonuria in South and Central Portugal: Prevalence of V388M mutation

Paula Leandro, Isabel Rivera, Vera Ribeiro, Isabel Tavares de Almeida, Carlos da Silveira, Maria Celeste Lechner

Journal:

Year:

1995

Language:

english

File:

PDF, 276 KB

english, 1995

18

Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

Shunji Tomatsu, Seiji Fukuda, Alan Cooper, James E. Wraith, Naoto Yamada, Kouji Isogai, Zenichiro Kato, Kazuko Sukegawa, Naomi Kondo, Yasuyuki Suzuki, Nobuyuki Shimozawa, Tadao Orii

Journal:

Year:

1995

Language:

english

File:

PDF, 180 KB

english, 1995

19

Identification of a novel Ala797Thr mutation in exon 21 of the β-myosin heavy chain gene in hypertrophic cardiomyopathy

Johanna C. Moolman, Paul A. Brink, Valerie A. Corfield

Journal:

Year:

1995

Language:

english

File:

PDF, 202 KB

english, 1995

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