Works matching IS 10597794 AND DT 1995 AND VI 6 AND IP 2

Results: 19

Mutations in the estrogen receptor gene.

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 97, doi. 10.1002/humu.1380060202

By:

Sluyser, Mels

Publication type:

Article

A nonsense mutation in two German patients with fucosidosis.

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 184, doi. 10.1002/humu.1380060213

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 136, doi. 10.1002/humu.1380060206

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 192, doi. 10.1002/humu.1380060217

By:

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

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1995, v. 6, n. 2, p. fmi, doi. 10.1002/humu.1380060201
Publication type:: Article

A de novo duplication in the low density lipoprotein receptor gene.

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 181, doi. 10.1002/humu.1380060212

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 126, doi. 10.1002/humu.1380060205

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 190, doi. 10.1002/humu.1380060216

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 163, doi. 10.1002/humu.1380060209

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 177, doi. 10.1002/humu.1380060211

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 116, doi. 10.1002/humu.1380060204

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 188, doi. 10.1002/humu.1380060215

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 152, doi. 10.1002/humu.1380060208

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 197, doi. 10.1002/humu.1380060219

By:

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

Publication type:

Article

Identification of seven novel mutations associated with metachromatic leukodystrophy.

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 170, doi. 10.1002/humu.1380060210

By:

Barth, Maria Luiza;
Fensom, Anthony;
Harris, Ann

Publication type:

Article

Mutational analysis of patients with X-linked adrenoleukodystrophy.

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 104, doi. 10.1002/humu.1380060203

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 186, doi. 10.1002/humu.1380060214

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 144, doi. 10.1002/humu.1380060207

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 195, doi. 10.1002/humu.1380060218

By:

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

Publication type:

Article