Works matching IS 10597794 AND DT 1999 AND VI 14 AND IP 2

Results: 13

A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Published in:

Human Mutation, 1999, v. 14, n. 2, p. 182, doi. 10.1002/(SICI)1098-1004(1999)14:2<182::AID-HUMU13>3.0.CO;2-V

By:

Mittre, H.;
Bahlous, A.;
Leporrier, N.;
Leymarie, P.

Publication type:

Article

Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus.

Published in:

Human Mutation, 1999, v. 14, n. 2, p. 163, doi. 10.1002/(SICI)1098-1004(1999)14:2<163::AID-HUMU8>3.0.CO;2-B

By:

Schöneberg, Torsten;
Pasel, Katharina;
von Baehr, Volker;
Schulz, Angela;
Volk, Hans-Dieter;
Gudermann, Thomas;
Filler, Guido

Publication type:

Article

Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.

Published in:

Human Mutation, 1999, v. 14, n. 2, p. 181, doi. 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU10>3.0.CO;2-6

By:

El-Aleem, Alice Abd;
Karck, Matthias;
Haverich, Axel;
Schmidtke, Jörg;
Arslan-Kirchner, Mine

Publication type:

Article

Clinical spectrum of fibroblast growth factor receptor mutations.

Published in:

Human Mutation, 1999, v. 14, n. 2, p. 115, doi. 10.1002/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2

By:

Passos-Bueno, M.R.;
Wilcox, W.R.;
Jabs, E.W.;
Sertié, A.L.;
Alonso, L.G.;
Kitoh, H.

Publication type:

Article

New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.

Published in:

Human Mutation, 1999, v. 14, n. 2, p. 156, doi. 10.1002/(SICI)1098-1004(1999)14:2<156::AID-HUMU7>3.0.CO;2-E

By:

Castellví-Bel, S.;
Sheikhavandi, S.;
Telatar, M.;
Tai, L-Q.;
Hwang, M.;
Wang, Z.;
Yang, Z.;
Cheng, R.;
Gatti, R.A.

Publication type:

Article

Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) gene-Lessons for corneal amyloidogenesis.

Published in:

Human Mutation, 1999, v. 14, n. 2, p. 126, doi. 10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W

By:

Stewart, Helen S.;
Ridgway, Alan E.;
Dixon, Michael J.;
Bonshek, Richard;
Parveen, Rahat;
Black, Graeme

Publication type:

Article

Update of the androgen receptor gene mutations database.

Published in:

Human Mutation, 1999, v. 14, n. 2, p. 103, doi. 10.1002/(SICI)1098-1004(1999)14:2<103::AID-HUMU2>3.0.CO;2-A

By:

Gottlieb, Bruce;
Beitel, Lenore K.;
Lumbroso, Rose;
Pinsky, Leonard;
Trifiro, Mark

Publication type:

Article

A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon.

Published in:

Human Mutation, 1999, v. 14, n. 2, p. 145, doi. 10.1002/(SICI)1098-1004(1999)14:2<145::AID-HUMU6>3.0.CO;2-L

By:

Maillet, Philippe;
Venezia, Nicole Dalla;
Lorenzo, Frédéric;
Morinière, Madeleine;
Bozon, Muriel;
Noël, Bernard;
Delaunay, Jean;
Baklouti, Faouzi

Publication type:

Article

A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.

Published in:

Human Mutation, 1999, v. 14, n. 2, p. 182, doi. 10.1002/(SICI)1098-1004(1999)14:2<182::AID-HUMU12>3.0.CO;2-Y

By:

Yamamoto, Toshiyuki;
Nanba, Eiji

Publication type:

Article

The protein truncation test: A review.

Published in:

Human Mutation, 1999, v. 14, n. 2, p. 95, doi. 10.1002/(SICI)1098-1004(1999)14:2<95::AID-HUMU1>3.0.CO;2-G

By:

Den Dunnen, Johan T.;
Van Ommen, Gert-Jan B.

Publication type:

Article

Cystic fibrosis patients with the 3272-26A→G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.

Published in:

Human Mutation, 1999, v. 14, n. 2, p. 133, doi. 10.1002/(SICI)1098-1004(1999)14:2<133::AID-HUMU5>3.0.CO;2-T

By:

Beck, Sebastian;
Penque, Deborah;
Garcia, Susana;
Gomes, Anita;
Farinha, Carlos;
Mata, Lucinda;
Gulbenkian, Sérgio;
Gil-Ferreira, Karin;
Duarte, Ângela;
Pacheco, Paula;
Barreto, Celeste;
Lopes, Beatriz;
Cavaco, José;
Lavinha, João;
Amaral, Margarida D.

Publication type:

Article

Highly sensitive mutation screening by REF with low concentrations of urea: A blinded analysis of a 2-kb region of the p53 gene reveals two common haplotypes.

Published in:

Human Mutation, 1999, v. 14, n. 2, p. 175, doi. 10.1002/(SICI)1098-1004(1999)14:2<175::AID-HUMU9>3.0.CO;2-3

By:

Feng, Jinong;
Buzin, Carolyn H.;
Tang, Shih-Huey E.;
Scaringe, William A.;
Sommer, Steve S.

Publication type:

Article

Identification of three novel mutations in the MYO7A gene.

Published in:

Human Mutation, 1999, v. 14, n. 2, p. 181, doi. 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU11>3.0.CO;2-3

By:

Cuevas, José M.;
Espinós, C.;
Millán, J.M.;
Sánchez, F.;
Trujillo, M.J.;
Ayuso, C.;
Beneyto, M.;
Nájera, C.

Publication type:

Article