Works matching IS 10597794 AND DT 1997 AND VI 10 AND IP 1

Results: 16

Oligonucleotide micro-arrays for identification of unknown mutations: how far from reality?

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1997)10:1<1::AID-HUMU1>3.0.CO;2-P

By:

Ginot, Frédéric

Publication type:

Article

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 11, doi. 10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P

By:

Thöny, Beat;
Blau, Nenad

Publication type:

Article

The cystic fibrosis ΔF508 gene mutation and cancer.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 45, doi. 10.1002/(SICI)1098-1004(1997)10:1<45::AID-HUMU6>3.0.CO;2-L

By:

Padua, Rose Ann;
Warren, Neil;
Grimshaw, David;
Smith, Melissa;
Lewis, Christopher;
Whittaker, Jack;
Laidler, Peter;
Wright, Patricia;
Douglas-Jones, Anthony;
Fenaux, Pierre;
Sharma, Anup;
Horgan, Kieran;
West, Robert

Publication type:

Article

Identification of a one-base germline deletion (codon 888 del C) and an intron splice acceptor site polymorphism in hMSH2.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 80, doi. 10.1002/(SICI)1098-1004(1997)10:1<80::AID-HUMU12>3.0.CO;2-W

By:

Swensen, Jeff;
Lewis, Cathryn M.;
Cannon-Albright, Lisa A.

Publication type:

Article

Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 36, doi. 10.1002/(SICI)1098-1004(1997)10:1<36::AID-HUMU5>3.0.CO;2-K

By:

Gudnason, Vilmundur;
Sigurdsson, Gunnar;
Nissen, Henrik;
Humphries, Steve E.

Publication type:

Article

SSCP analysis: A blind sensitivity trial.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 65, doi. 10.1002/(SICI)1098-1004(1997)10:1<65::AID-HUMU9>3.0.CO;2-L

By:

Jordanova, Albena;
Kalaydjieva, Luba;
Savov, Alexey;
Claustres, Mireille;
Schwarz, Martin;
Estivill, Xavier;
Angelicheva, Dora;
Haworth, Andrea;
Casals, Teresa;
Kremensky, Ivo

Publication type:

Article

Mutations associated with hemophilia B in Turkish patients.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 76, doi. 10.1002/(SICI)1098-1004(1997)10:1<76::AID-HUMU11>3.0.CO;2-X

By:

Çaǧlayan, S. Hande;
Gökmen, Yeşim;
Aktuǧlu, Gülten;
Gürgey, Aytemiz;
Sommer, Steve S.

Publication type:

Article

Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 86, doi. 10.1002/(SICI)1098-1004(1997)10:1<86::AID-HUMU15>3.0.CO;2-W

By:

Gouya, Laurent;
Pascaud, Olivier;
Munck, Anne;
Elion, Jacques;
Denamur, Erick

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1997, v. 10, n. 1, p. fmi, doi. 10.1002/humu.1380100101
Publication type:: Article

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 25, doi. 10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L

By:

Oppliger, Tanja;
Thöny, Beat;
Kluge, Claudia;
Matasovic, Ana;
Heizmann, Claus W.;
Ponzone, Alberto;
Spada, Marco;
Blau, Nenad

Publication type:

Article

An expanded histatin gene polymorphism and test of a possible disease resistant phenotype.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 58, doi. 10.1002/(SICI)1098-1004(1997)10:1<58::AID-HUMU8>3.0.CO;2-I

By:

Araki, Motohide;
Anstey, Nicholas M.;
Mwaikambo, Esther D.;
Dua, Arnavaz;
Amberger, Ed;
Azen, Edwin A.

Publication type:

Article

Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 71, doi. 10.1002/(SICI)1098-1004(1997)10:1<71::AID-HUMU10>3.0.CO;2-X

By:

Villani, Guglielmo R. D.;
Balzano, Nicola;
Grosso, Michela;
Salvatore, Francesco;
Izzo, Paola;
Di Natale, Paola

Publication type:

Article

24 bp deletion and Ala<sub>1278</sub> to val mutation of the ATP7B gene in a Sardinian family with Wilson disease.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 84, doi. 10.1002/(SICI)1098-1004(1997)10:1<84::AID-HUMU14>3.0.CO;2-W

By:

Orrù, S;
Thomas, G;
Loizedda, A;
Cox, DW;
Contu, L

Publication type:

Article

Multiple de novo MPZ (P<sub>0</sub>) point mutations in a sporadic Dejerine-Sottas case.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 21, doi. 10.1002/(SICI)1098-1004(1997)10:1<21::AID-HUMU3>3.0.CO;2-P

By:

Warner, Laura E.;
Shohat, Mordechai;
Shorer, Zamir;
Lupski, James R.

Publication type:

Article

Molecular heterogeneity of classical and duarte galactosemia: Mutation analysis by denaturing gradient gel electrophoresis.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 49, doi. 10.1002/(SICI)1098-1004(1997)10:1<49::AID-HUMU7>3.0.CO;2-H

By:

Greber-Platzer, S;
Guldberg, P;
Scheibenreiter, S;
Item, C;
Schuller, E;
Patel, N;
Strobl, W

Publication type:

Article

Homozygosity for the common Ashkenazi Jewish Tay-Sachs +1 IVS-12 splice-junction mutation: First report.

Published in:

Human Mutation, 1997, v. 10, n. 1, p. 82, doi. 10.1002/(SICI)1098-1004(1997)10:1<82::AID-HUMU13>3.0.CO;2-W

By:

Strasberg, Paula;
Warren, Irene;
Skomorowski, Marie-Anne;
Feigenbaum, Annette

Publication type:

Article