Works matching IS 10597794 AND DT 2001 AND VI 18 AND IP 5

Results: 16

An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 411, doi. 10.1002/humu.1212

By:

D'Souza-Li, Lilia;
Canaff, Lucie;
Janicic, Natasa;
Cole, David E.C.;
Hendy, Geoffrey N.

Publication type:

Article

Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 451, doi. 10.1002/humu.1216

By:

Larsen, Lars Allan;
Johnson, Martin;
Brown, Candia;
Christiansen, Michael;
Frank-Hansen, Rune;
Vuust, Jens;
Andersen, Paal Skytt

Publication type:

Article

Fabry disease: 20 novel GLA mutations in 35 families.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 459, doi. 10.1002/humu.1219

By:

Blaydon, Diana;
Hill, Jane;
Winchester, Bryan

Publication type:

Article

A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase ( HPRT1) gene associated with Lesch-Nyhan syndrome.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 435, doi. 10.1002/humu.1214

By:

Mizunuma, Makiko;
Fujimori, Shin;
Ogino, Hitoshi;
Ueno, Takamasa;
Inoue, Hirokazu;
Kamatani, Naoyuki

Publication type:

Article

Go!Poly: A gene-oriented polymorphism database.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 382, doi. 10.1002/humu.1209

By:

Zhang, Ge;
Zhang, Sizhong;
Chen, Wei;
Qiu, Weimin;
Wu, Hui;
Wang, Jianmin;
Luo, Jingchu;
Gu, Xiaocheng;
Cotton, Richard G.H.

Publication type:

Article

Mutations in BTD causing biotinidase deficiency.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 375, doi. 10.1002/humu.1208

By:

Hymes, Jeanne;
Stanley, Christine M.;
Wolf, Barry

Publication type:

Article

Structural and functional analysis of a new desmin variant causing desmin-related myopathy.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 388, doi. 10.1002/humu.1210

By:

Goudeau, Bertrand;
Dagvadorj, Ayush;
Rodrigues-Lima, Fernando;
Nédellec, Patrick;
Casteras-Simon, Monique;
Perret, Emmanuelle;
Langlois, Sylvie;
Goldfarb, Lev;
Vicart, Patrick

Publication type:

Article

Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform ( STK11 c.597<sup>⁁</sup>598insIVS4).

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 397, doi. 10.1002/humu.1211

By:

Abed, Abdalla A.;
Günther, Klaus;
Kraus, Cornelia;
Hohenberger, Werner;
Ballhausen, Wolfgang G.

Publication type:

Article

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 460, doi. 10.1002/humu.1222

By:

Lerer, Israela;
Sagi, Michal;
Ben-Neriah, Ziva;
Wang, Tieling;
Levi, Haya;
Abeliovich, Dvorah

Publication type:

Article

Variability of the CD36 gene in West Africa.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 444, doi. 10.1002/humu.1215

By:

Gelhaus, Annette;
Scheding, Andreas;
Browne, Edmund;
Burchard, Gerd D.;
Horstmann, Rolf D.

Publication type:

Article

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 460, doi. 10.1002/humu.1221

By:

Salvi, S.;
Dionisi-Vici, C.;
Bertini, E.;
Verardo, M.;
Santorelli, F.M.

Publication type:

Article

Missense mutations of human homeoboxes: A review.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 361, doi. 10.1002/humu.1207

By:

D'Elia, Angela V.;
Tell, Gianluca;
Paron, Igor;
Pellizzari, Lucia;
Lonigro, Renata;
Damante, Giuseppe

Publication type:

Article

Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 458, doi. 10.1002/humu.1218

By:

García-García, Ana B.;
Real, José T.;
Puig, Oscar;
Cebolla, Elvira;
Marín-García, Pablo;
Martínez Ferrandis, Jose I.;
García-Sogo, Magdalena;
Civera, Miguel;
Ascaso, Juan F.;
Carmena, Rafael;
Armengod, M. Eugenia;
Chaves, F. Javier

Publication type:

Article

Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 459, doi. 10.1002/humu.1220

By:

Jakubowska, Anna;
Zajaczek, Stanislaw;
Haus, Olga;
Limon, Janusz;
Kostyk, Ewa;
Krzystolik, Zofia;
Lubinski, Jan

Publication type:

Article

Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 422, doi. 10.1002/humu.1213

By:

Watanabe, Yoriko;
Murray, Jeffrey C.;
Bjork, Bryan C.;
Bird, Christine P.;
Chiang, P.-W.;
Gregory, Simon G.;
Kurnit, David M.;
Schutte, Brian C.

Publication type:

Article

Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 458, doi. 10.1002/humu.1217

By:

Hamlington, Jeanette D.;
Jones, Cheron;
McIntosh, Iain

Publication type:

Article