Works matching IS 10597794 AND DT 1995 AND VI 5 AND IP 1

Results: 17

Methods for rapid detection of a recurrent nonsense mutation and documentation of phenotypic features in neurofibromatosis type 1 patients.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 81, doi. 10.1002/humu.1380050111

By:

Dublin, Sascha;
Riccardi, Vincent M.;
Stephens, Karen

Publication type:

Article

Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 28, doi. 10.1002/humu.1380050104

By:

Belsham, Denise D.;
Pereira, Fred;
Greenberg, Cheryl R.;
Liao, Shutsung;
Wrogemann, Klaus

Publication type:

Article

A splicing mutation (1898 + 1G→T) in the CFTR gene causing cystic fibrosis.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 101, doi. 10.1002/humu.1380050115

By:

Crawford, Joanna;
Labrinidis, Agatha;
Carey, William F.;
Nelson, Paul V.;
Harvey, John S.;
Morris, C. Phillip

Publication type:

Article

Apolipoprotein A-IV polymorphism in the Hungarian population: Gene frequencies, effect on lipid levels, and sequence of two new variants.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 58, doi. 10.1002/humu.1380050108

By:

Menzel, H. J.;
Dieplinger, H.;
Sandholzer, C.;
Karádi, I.;
Utermann, G.;
Császár, A.

Publication type:

Article

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 76, doi. 10.1002/humu.1380050110

By:

Valentijn, Linda J.;
Ouvrier, Robert A.;
Van Den Bosch, Norbert H. A.;
Bolhuis, Pieter A.;
Baas, Frank;
Nicholson, Garth A.

Publication type:

Article

Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 23, doi. 10.1002/humu.1380050103

By:

Russo, Maria Pia;
Romeo, Giovanni;
Devoto, Marcella;
Barbujani, Guido;
Cabrini, Giulio;
Giunta, Annamaria;
D'Alcamo, Elena;
Leoni, Gianbattista;
Sangiuolo, Federica;
Magnani, Carmelina;
Cremonesi, Laura;
Ferrari, Maurizio

Publication type:

Article

Mutations of the iduronate-2-sulfatase gene in 12 Polish. Patients with mucopolysaccharidosis type II (Hunter syndrome).

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 97, doi. 10.1002/humu.1380050114

By:

Popowska, Ewa;
Rathmann, Michaela;
Tylki-Szymanska, Anna;
Bunge, Susanna;
Steglich, Cordula;
Schwinger, Eberhard;
Gal, Andreas

Publication type:

Article

Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 48, doi. 10.1002/humu.1380050107

By:

Krawczak, Michael;
Smith-Sorensen, Birgitte;
Schmidtke, Jörg;
Kakkar, Vijay V.;
Cooper, David N.;
Hovig, Eivind

Publication type:

Article

Molecular etiology of factor VIII deficiency in hemophilia A.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 1, doi. 10.1002/humu.1380050102

By:

Antonarakis, Stylianos E.;
Kazazian, Haig H.;
Tuddenham, Edward G. D.

Publication type:

Article

Mitochondrial acetoacetyl-coenzyme a thiolase gene: A Novel 68-bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a caucasian patient with β-ketothiolase deficiency.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 94, doi. 10.1002/humu.1380050113

By:

Fukao, Toshiyuki;
Song, Xiang-Qian;
Yamaguchi, Seiji;
Orii, Tadao;
Wanders, Ronald J. A.;
Poll-The, Bwee. T.;
Hashimoto, Takashi

Publication type:

Article

Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 43, doi. 10.1002/humu.1380050106

By:

Zielenski, Julian;
Markiewicz, Danuta;
Chen, Hai Shien;
Schappert, Keith;
Seller, Anneke;
Durie, Peter;
Corey, Mary;
Tsui, Lap-Chee

Publication type:

Article

Rapid nonradioactive assay for the detection of the common French Canadian tyrosinemia type I mutation.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 105, doi. 10.1002/humu.1380050117

By:

Grompe, Markus;
Al-Dhalimy, Muhsen

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1995, v. 5, n. 1, p. fmi, doi. 10.1002/humu.1380050101
Publication type:: Article

Deletion detection in the dystrophin gene by multiplex gap ligase chain reaction and immunochromatographic strip technology.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 86, doi. 10.1002/humu.1380050112

By:

Jou, Cynthia;
Rhoads, James;
Bouma, Stanley;
Ching, Shanfun;
Hoijer, Joanell;
Schroeder-Poliak, Pamella;
Zaun, Peter;
Smith, Susan;
Richards, Sue;
Caskey, C. Thomas;
Gordon, Julian

Publication type:

Article

Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 34, doi. 10.1002/humu.1380050105

By:

Wakazono, Akihiro;
Fukao, Toshiyuki;
Yamaguchi, Seiji;
Hori, Toshinori;
Orii, Tadao;
Lambert, Marie;
Mitchell, Grant A.;
Lee, Gray W.;
Hashimoto, Takashi

Publication type:

Article

Absence of mutations in the apolipoprotein E (APOE) gene of patients with Alzheimer disease.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 103, doi. 10.1002/humu.1380050116

By:

Seeman, P.;
Laccone, F.;
Reiss, J.;
Stoppe, G.

Publication type:

Article

Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype.

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 66, doi. 10.1002/humu.1380050109

By:

Chen, Fan;
Kishida, Takeshi;
Yao, Masahiro;
Hustad, Thomas;
Glavac, Damjan;
Dean, Michael;
Gnarra, James R.;
Orcutt, Mary Lou;
Duh, Fuh Mei;
Glenn, Gladys;
Green, Jane;
Hsia, Y. Edward;
Lamiell, James;
Li, Hua;
Wei, Ming Hui;
Schmidt, Laura;
Tory, Kalman;
Kuzmin, Igor;
Stackhouse, Tom;
Latif, Farida

Publication type:

Article