Works matching IS 10597794 AND DT 1999 AND VI 14 AND IP 1

Results: 25

WRN mutations in Werner Syndrome.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 84, doi. 10.1002/(SICI)1098-1004(1999)14:1<84::AID-HUMU11>3.0.CO;2-4

By:

Moser, Michael J.;
Oshima, Junko;
Monnat, Raymond J.

Publication type:

Article

Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 30, doi. 10.1002/(SICI)1098-1004(1999)14:1<30::AID-HUMU4>3.0.CO;2-X

By:

Espinosa-Parrilla, Yolanda;
Morell, Marta;
Souto, Joan Carles;
Tirado, Isabel;
Fontcuberta, Jordi;
Estivill, Xavier;
Sala, Núria

Publication type:

Article

No linkage of P187S polymorphism in NAD(P)H: Quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 67, doi. 10.1002/(SICI)1098-1004(1999)14:1<67::AID-HUMU8>3.0.CO;2-5

By:

Kristiansen, Ole P.;
Larsen, Zenia M.;
Johannesen, Jesper;
Nerup, Jørn;
Mandrup-Poulsen, Thomas;
Pociot, Flemming

Publication type:

Article

Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 91, doi. 10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU22>3.0.CO;2-8

By:

Gershoni-Baruch, Ruth;
Kepten, Ilana;
Shinawi, Marwan;
Brik, Riva

Publication type:

Article

Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 88, doi. 10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU15>3.0.CO;2-H

By:

Haas, Regina;
Gutierrez-Rivero, Bertha;
Knoche, Judith;
Böker, Klaus;
Manns, Michael P.;
Schmidt, Hartmut H.-J.

Publication type:

Article

A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 90, doi. 10.1002/(SICI)1098-1004(1999)14:1<90::AID-HUMU19>3.0.CO;2-S

By:

Sugiyama, Naoya;
Suzuki, Kyoko;
Matsumura, Takehiko;
Kawanishi, Chiaki;
Onishi, Hideki;
Yamada, Yoshiteru;
Iseki, Eizo;
Kosaka, Kenji

Publication type:

Article

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 23, doi. 10.1002/(SICI)1098-1004(1999)14:1<23::AID-HUMU3>3.0.CO;2-#

By:

Glaser, Benjamin;
Furth, Judith;
Stanley, Charles A.;
Baker, Lester;
Thornton, Paul S.;
Landau, Heddy;
Permutt, M. Alan

Publication type:

Article

Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 54, doi. 10.1002/(SICI)1098-1004(1999)14:1<54::AID-HUMU7>3.0.CO;2-E

By:

Lemahieu, Vanessa;
Gastier, J.M.;
Francke, Uta

Publication type:

Article

Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresis.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 80, doi. 10.1002/(SICI)1098-1004(1999)14:1<80::AID-HUMU10>3.0.CO;2-J

By:

Gabolde, Martine;
Muralitharan, Shanmugakonar;
Besmond, Claude

Publication type:

Article

Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 91, doi. 10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU21>3.0.CO;2-B

By:

Trioche, Pascale;
Francoual, Jeanne;
Chalas, Jacqueline;
Capel, Liliane;
Bernard, Olivier;
Labrune, Philippe

Publication type:

Article

Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: Characterisation of 6 novel mutations.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 87, doi. 10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU14>3.0.CO;2-N

By:

Hartog, Catherine;
Fryer, Alan;
Upadhyaya, Meena

Publication type:

Article

A novel intragenetic PVUII marker in the human neuronal nicotinic acetylcholine receptor a4 subunit gene ( CHRNA4).

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 93, doi. 10.1002/(SICI)1098-1004(1999)14:1<93::AID-HUMU25>3.0.CO;2-U

By:

Iwata, Hiromi;
Hirose, Shinichi;
Akiyoshi, Hidetaka;
Kaneko, Sunao;
Mitsudome, Akihisa

Publication type:

Article

Identification of novel mutations in the PCCB gene in European propionic acidemia patients.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 89, doi. 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5

By:

Muro, Silvia;
Rodríguez-Pombo, Pilar;
Pérez, Belén;
Pérez-Cerdá, Celia;
Desviat, Lourdes R.;
Sperl, Wolfgang;
Skladal, Daniela;
Sass, Jörn Oliver;
Ugarte, Magdalena

Publication type:

Article

A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 9, doi. 10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6

By:

Cleaver, James E.;
Thompson, Larry H.;
Richardson, Audrey S.;
States, J. Christopher

Publication type:

Article

Identification of a common PEX1 mutation in Zellweger syndrome.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 45, doi. 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J

By:

Collins, Cynthia S.;
Gould, Stephen J.

Publication type:

Article

A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 90, doi. 10.1002/(SICI)1098-1004(1999)14:1<90::AID-HUMU20>3.0.CO;2-H

By:

Krone, Nils;
Braun, Andreas;
Roscher, Adelbert Anton;
Schwarz, Hans Peter

Publication type:

Article

Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 87, doi. 10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU13>3.0.CO;2-Q

By:

Hattori, Hiroaki;
Nagano, Makoto;
Iwata, Fujihiko;
Homma, Yasuhiko;
Egashira, Tohru;
Okada, Tomoo

Publication type:

Article

Erratum: Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 92, doi. 10.1002/(SICI)1098-1004(1999)14:1<92::AID-HUMU24>3.0.CO;2-#

By:

Colgin, Lorel M.;
Hackmann, Alden F.M.;
Monnat, Raymond J.

Publication type:

Article

Spectrum of CFTR mutations in the middle north of Spain and identification of a novel mutation (1341G→A).

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 89, doi. 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU17>3.0.CO;2-8

By:

Tellería, J.J.;
Alonso, M.J.;
Calvo, C.;
Alonso, M.;
Blanco, A.

Publication type:

Article

IARC p53 mutation database: A relational database to compile and analyze p53 mutations in human tumors and cell lines.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1999)14:1<1::AID-HUMU1>3.0.CO;2-H

By:

Hernandez-Boussard, Tina;
Rodriguez-Tome, Patricia;
Montesano, Ruggero;
Hainaut, Pierre

Publication type:

Article

C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian gypsy population.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 40, doi. 10.1002/(SICI)1098-1004(1999)14:1<40::AID-HUMU5>3.0.CO;2-R

By:

Todorova, Albena;
Ashikov, Angel;
Beltcheva, Olga;
Tournev, Ivailo;
Kremensky, Ivo

Publication type:

Article

A methylation PCR approach for detection of fragile X syndrome.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 71, doi. 10.1002/(SICI)1098-1004(1999)14:1<71::AID-HUMU9>3.0.CO;2-5

By:

Panagopoulos, Ioannis;
Lassen, Carin;
Kristoffersson, Ulf;
Åman, Pierre

Publication type:

Article

Corrigenda.

Published in:: Human Mutation, 1999, v. 14, n. 1, p. 86, doi. 10.1002/(SICI)1098-1004(1999)14:1<86::AID-HUMU12>3.0.CO;2-W
Publication type:: Article

Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 92, doi. 10.1002/(SICI)1098-1004(1999)14:1<92::AID-HUMU23>3.0.CO;2-2

By:

Csokay, Bela;
Tihomirova, Laima;
Stengrevics, Aivars;
Sinicka, Olga;
Olah, Edith

Publication type:

Article

Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C] in Spanish Gaucher disease patients.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 88, doi. 10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU16>3.0.CO;2-E

By:

Sarria, Alfonso J.;
Giraldo, Pilar;
Perez-Calvo, Juan I.;
Pocoví, Miguel

Publication type:

Article