Works matching IS 10597794 AND DT 1999 AND VI 13 AND IP 4

Results: 22

A novel mutation L1425p in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE);.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 337, doi. 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU12>3.0.CO;2-F

By:

Peters, Hartmut;
Hess, D.;
Fahsold, R.;
Schülke, M.

Publication type:

Article

WRN mutations in Werner syndrome.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 271, doi. 10.1002/(SICI)1098-1004(1999)13:4<271::AID-HUMU2>3.0.CO;2-Q

By:

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

Publication type:

Article

Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 338, doi. 10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU16>3.0.CO;2-0

By:

Mashima, Yukihiko;
Shinoda, Kei;
Ishida, Susumu;
Ozawa, Yoko;
Kudoh, Jun;
Iwata, Takeshi;
Oguchi, Yoshihisa;
Shimizu, Nobuyoshi

Publication type:

Article

Low yield of polymorphisms from EST blast searching: Analysis of genes related to oxidative stress and verification of the P197L polymorphism in GPX1.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 294, doi. 10.1002/(SICI)1098-1004(1999)13:4<294::AID-HUMU6>3.0.CO;2-5

By:

Forsberg, Lena;
Faire, Ulf de;
Morgenstern, Ralf

Publication type:

Article

Co-segregation of MEN2 and Hirschsprung's disease: The same mutation of RET with both gain and loss-of-function?

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1999)13:4<331::AID-HUMU11>3.0.CO;2-#

By:

Takahashi, Masahide;
Iwashita, Toshihide;
Santoro, Massimo;
Lyonnet, Stanislas;
Lenoir, Gilbert M.;
Billaud, Marc

Publication type:

Article

Apo A-IMiyagi(947delA): A novel deletion in the apolipoprotein A-I gene associated with familial hypoalphalipoproteinemia.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 341, doi. 10.1002/(SICI)1098-1004(1999)13:4<341::AID-HUMU22>3.0.CO;2-V

By:

Kure, Shigeo;
Hou, Dian-Chang;
Sato, Michinori;
Matsubara, Yoichi;
Narisawa, Kuniaki

Publication type:

Article

Mitochondrial deafness mutations reviewed.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 261, doi. 10.1002/(SICI)1098-1004(1999)13:4<261::AID-HUMU1>3.0.CO;2-W

By:

Fischel-Ghodsian, Nathan

Publication type:

Article

Identification of 6 new mutations in the iduronate sulfatase gene.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 338, doi. 10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU15>3.0.CO;2-3

By:

Vallance, Hilary D.;
Bernard, Lynn;
Rashed, Michael;
Chiu, Doris;
Le, Grace;
Toone, Jenny;
Applegarth, Derek A.;
Coulter-Mackie, Marion

Publication type:

Article

Characterisation of 16 polymorphic markers in the NF2 gene: Application to hemizygosity detection.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 290, doi. 10.1002/(SICI)1098-1004(1999)13:4<290::AID-HUMU5>3.0.CO;2-C

By:

Legoix, Patricia;
Legrand, Marie-Fernande;
Ollagnon, Elisabeth;
Lenoir, Gilbert;
Thomas, Gilles;
Zucman-Rossi, Jessica

Publication type:

Article

Corrigendum: Novel single base polymorphisms and rare sequence variants in the laminin α2-chain coding region detected by RNA/SSCP analysis.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 340, doi. 10.1002/(SICI)1098-1004(1999)13:4<340::AID-HUMU19>3.0.CO;2-E

By:

Panicker, Shirly G.;
Mendell, Joshua T.;
Chen, Lei;
Feng, Bo;
Sahenk, Zarife;
Marzluf, George A.;
Amato, Anthony A.;
Mendell, Jerry R.

Publication type:

Article

High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 318, doi. 10.1002/(SICI)1098-1004(1999)13:4<318::AID-HUMU9>3.0.CO;2-F

By:

Larsen, Lars Allan;
Christiansen, Michael;
Vuust, Jens;
Andersen, Paal Skytt

Publication type:

Article

Heteroduplexes may confuse the interpretation of PCR-based molecular tests for the Friedreich ataxia GAA triplet repeat.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 328, doi. 10.1002/(SICI)1098-1004(1999)13:4<328::AID-HUMU10>3.0.CO;2-J

By:

Poirier, Josée;
Ohshima, Keiichi;
Pandolfo, Massimo

Publication type:

Article

A novel −27A>G point mutation in the beta globin gene.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 340, doi. 10.1002/(SICI)1098-1004(1999)13:4<340::AID-HUMU21>3.0.CO;2-0

By:

Fattore, Silvia;
Travi, Maurizio;
Primignani, Paola;
Biasi, Anita;
Sbrocca, Federica;
Mirra, Nadia;
Ghilardi, Roberta;
Cantù Rajnoldi, Angelo

Publication type:

Article

Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC;.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 337, doi. 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU14>3.0.CO;2-9

By:

Marcão, Ana;
Amaral, Olga;
Pinto, Eugénia;
Pinto, Rui;
Sá Miranda, M.C.

Publication type:

Article

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 286, doi. 10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C

By:

Scherer-Oppliger, Tanja;
Matasovic, Ana;
Laufs, Stephanie;
Levy, Harvey L.;
Quackenbush, Elisabeth J.;
Blau, Nenad;
Thöny, Beat

Publication type:

Article

Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin : T55I, R164Q, V120E.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 339, doi. 10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU18>3.0.CO;2-S

By:

Karadimas, Charalampos;
Panas, Marios;
Chronopoulou, Penelope;
Avramopoulos, Dimitrios;
Vassilopoulos, Demetrios

Publication type:

Article

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 311, doi. 10.1002/(SICI)1098-1004(1999)13:4<311::AID-HUMU8>3.0.CO;2-P

By:

Bateman, John F.;
Freddi, Susanna;
Lamandé, Shireen R.;
Byers, Peter;
Nasioulas, Steven;
Douglas, Jenny;
Otway, Robyn;
Kohonen-Corish, Maija;
Edkins, Edward;
Forrest, Susan

Publication type:

Article

A novel BRCA1 mutation (1099 delCA stop codon 328) linked to breast and/or ovarian cancer.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 340, doi. 10.1002/(SICI)1098-1004(1999)13:4<340::AID-HUMU20>3.0.CO;2-3

By:

Voglino, Gianfranco;
Pera, Cinzia;
Ferrara, Gianbattista;
Silengo, Lorenzo;
Stefanuto, Guglielmo;
Marongiu, Antonella;
Fessia, Luciano

Publication type:

Article

A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): A founder mutation in the Palestinian Arabs.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 337, doi. 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU13>3.0.CO;2-C

By:

Lerer, Israela;
Laufer-Cahana, Ayala;
Rivlin, Jacob R.;
Augarten, Arie;
Abeliovich, Dvorah

Publication type:

Article

Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 280, doi. 10.1002/(SICI)1098-1004(1999)13:4<280::AID-HUMU3>3.0.CO;2-L

By:

Vihinen, Mauno;
Kwan, Sau-Ping;
Lester, Tracy;
Ochs, Hans D.;
Resnick, Igor;
Väliaho, Jouni;
Conley, Mary Ellen;
Smith, C.I. Edvard

Publication type:

Article

Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 339, doi. 10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU17>3.0.CO;2-V

By:

Seyrantepe, Volkan;
Ozguc, Meral;
Coskun, Turgay;
Ozalp, Imran;
Reichardt, Juergen KV

Publication type:

Article

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 301, doi. 10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO;2-V

By:

Jongbloed, R.J.E.;
Wilde, A.A.M.;
Geelen, J.L.M.C.;
Doevendans, P.;
Schaap, C.;
Van Langen, I.;
van Tintelen, J.P.;
Cobben, J.M.;
Beaufort-Krol, G.C.M.;
Geraedts, J.P.M.;
Smeets, H.J.M.

Publication type:

Article