Works matching IS 10597794 AND DT 2000 AND VI 15 AND IP 2

Results: 17

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R).

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 206, doi. 10.1002/(SICI)1098-1004(200002)15:2<206::AID-HUMU13>3.0.CO;2-O

By:

Kozák, Libor;
Francová, Hana;
Fajkusová, Lenka;
Pijácková, Anna;
Macku, Jindriška;
Štastná, Sylvie;
Peškovová, Karolína;
Martincová, Olga;
Krijt, Jakub;
Bzdúch, Vladimír

Publication type:

Article

Novel cystic fibrosis mutation L1093P: Functional analysis and possible Native American origin.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 208, doi. 10.1002/(SICI)1098-1004(200002)15:2<208::AID-HUMU17>3.0.CO;2-6

By:

Yee, Kevin;
Robinson, Clare;
Hurlock, Gregory;
Moss, Richard B.;
Wine, Jeffrey J.

Publication type:

Article

Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1α (TCF1) promoter region in MODY patients.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 173, doi. 10.1002/(SICI)1098-1004(200002)15:2<173::AID-HUMU6>3.0.CO;2-W

By:

Godart, François;
Bellanné-Chantelot, Christine;
Clauin, Séverine;
Gragnoli, Claudia;
Abderrahmani, Amar;
Blanché, Hélène;
Boutin, Philippe;
Chèvre, Jean Claude;
Froguel, Philippe;
Bailleul, Bernard

Publication type:

Article

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 181, doi. 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S

By:

Stone, Deborah L.;
Tayebi, Nahid;
Orvisky, Eduard;
Stubblefield, Barbara;
Madike, Victor;
Sidransky, Ellen

Publication type:

Article

A variation in the HindIII restriction pattern of the dystrophin gene DMD with cDMD probe 11-14.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 204, doi. 10.1002/(SICI)1098-1004(200002)15:2<204::AID-HUMU12>3.0.CO;2-X

By:

Handa, Vaishali;
Kaul, Asha;
Kumari, Daman;
Goyle, Shobha

Publication type:

Article

Five novel mutations in fourteen patients with Fabry disease.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 207, doi. 10.1002/(SICI)1098-1004(200002)15:2<207::AID-HUMU16>3.0.CO;2-C

By:

Rosenberg, Kirsten Marie;
Schiffmann, Raphael;
Kaneski, Christine;
Brady, Roscoe O.;
Sørensen, Sven Asger;
Hasholt, Lis

Publication type:

Article

Screening practices for mutations in the CFTR gene ABCC7.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 135, doi. 10.1002/(SICI)1098-1004(200002)15:2<135::AID-HUMU2>3.0.CO;2-H

By:

Girodon-Boulandet, Emmanuelle;
Cazeneuve, Cécile;
Goossens, Michel

Publication type:

Article

Mutations in the human TWIST gene.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 150, doi. 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D

By:

Gripp, Karen W.;
Zackai, Elaine H.;
Stolle, Catherine A.

Publication type:

Article

Big Dye™ terminator cycle sequencing chemistry: Accuracy of the dilution process and application for screening mutations in the TCF1 and GCK genes.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 201, doi. 10.1002/(SICI)1098-1004(200002)15:2<201::AID-HUMU11>3.0.CO;2-8

By:

Boutin, P.;
Wahl, C.;
Samson, C.;
Vasseur, F.;
Laget, F.;
Froguel, P.

Publication type:

Article

Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: Identification of 3 novel polymorphisms and haplotype definition.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 207, doi. 10.1002/(SICI)1098-1004(200002)15:2<207::AID-HUMU15>3.0.CO;2-F

By:

Busquets, Christiane;
Coll, M. Josep;
Ribes, Antonia

Publication type:

Article

Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 123, doi. 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P

By:

Loeffen, J.L.C.M.;
Smeitink, J.A.M.;
Trijbels, J.M.F.;
Janssen, A.J.M.;
Triepels, R.H.;
Sengers, R.C.A.;
van den Heuvel, L.P.

Publication type:

Article

Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 166, doi. 10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z

By:

Kerr, Robyn;
Stevens, Gwynneth;
Manga, Prashiela;
Salm, Sarah;
John, Premila;
Haw, Tabitha;
Ramsay, Michele

Publication type:

Article

Nomenclature of trypsinogen mutations in hereditary pancreatitis.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 197, doi. 10.1002/(SICI)1098-1004(200002)15:9<197::AID-HUMU9>3.0.CO;2-6

By:

Teich, Niels;
Hoffmeister, Albrecht;
Keim, Volker

Publication type:

Article

The International Federation of Human Genetics Societies: A nexus of communication among geneticists worldwide.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 199, doi. 10.1002/(SICI)1098-1004(200002)15:2<199::AID-HUMU10>3.0.CO;2-I

By:

Ayme, Segolene

Publication type:

Article

Identification of three novel mutations of the palmitoyl-protein thioesterase-1 ( PPT1) gene in children with neuronal ceroid-lipofuscinosis.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 206, doi. 10.1002/(SICI)1098-1004(200002)15:2<206::AID-HUMU14>3.0.CO;2-L

By:

Waliany, Sophie;
Das, Amit K.;
Gaben, Ahmad;
Wisniewski, Krystyna E.;
Hofmann, Sandra L.

Publication type:

Article

Sequence variants of DLC1 in colorectal and ovarian tumours.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 156, doi. 10.1002/(SICI)1098-1004(200002)15:2<156::AID-HUMU4>3.0.CO;2-4

By:

Wilson, Peter J.;
McGlinn, Edwina;
Marsh, Anna;
Evans, Tim;
Arnold, Jeremy;
Wright, Kim;
Biden, Kelli;
Young, Joanne;
Wainwright, Brandon;
Wicking, Carol;
Chenevix-Trench, Georgia

Publication type:

Article

Mutation detection by TaqMan-allele specific amplification: Application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency.

Published in:

Human Mutation, 2000, v. 15, n. 2, p. 189, doi. 10.1002/(SICI)1098-1004(200002)15:2<189::AID-HUMU8>3.0.CO;2-H

By:

Fujii, Kunihiro;
Matsubara, Yoichi;
Akanuma, Jun;
Takahashi, Kazutoshi;
Kure, Shigeo;
Suzuki, Yoichi;
Imaizumi, Masue;
Iinuma, Kazuie;
Sakatsume, Osamu;
Rinaldo, Piero;
Narisawa, Kuniaki

Publication type:

Article