Works matching IS 10597794 AND DT 1997 AND VI 9 AND IP 2

Results: 16

E380D: A novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 181, doi. 10.1002/(SICI)1098-1004(1997)9:2<181::AID-HUMU12>3.0.CO;2-Z

By:

Kirby-Keyser, Linda;
Porter, Craig C.;
Donohoue, Patricia A.

Publication type:

Article

Three novel germline mutations in the adenomatous polyposis coli gene.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 191, doi. 10.1002/(SICI)1098-1004(1997)9:2<191::AID-HUMU16>3.0.CO;2-Y

By:

Scarano, Maria I.;
De Rosa, Marina;
Gentile, Maurizio;
Bucci, Luigi;
Ferulano, Giuseppe P.;
Carlomagno, Nicola;
Renda, Andrea;
Guanti, Ginevra;
Salvatore, Francesco;
Izzo, Paola

Publication type:

Article

Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 ( REP-1) gene.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 110, doi. 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D

By:

van den Hurk, JAJM;
Schwartz, M;
van Bokhoven, H;
van de Pol, TJR;
Bogerd, L;
Pinckers, AJLG;
Bleeker-Wagemakers, EM;
Pawlowitzki, IH;
Rüther, K;
Ropers, H-H;
Cremers, FPM

Publication type:

Article

Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 136, doi. 10.1002/(SICI)1098-1004(1997)9:2<136::AID-HUMU6>3.0.CO;2-7

By:

Macek, Milan;
Mercier, Bernard;
Macková, Alice;
Miller, Patrice Weiner;
Hamosh, Ada;
Férec, Claude;
Cutting, Garry R.

Publication type:

Article

Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 177, doi. 10.1002/(SICI)1098-1004(1997)9:2<177::AID-HUMU11>3.0.CO;2-#

By:

Soejima, Hidenobu;
Fujimoto, Masahiro;
Tsukamoto, Kazuhiro;
Matsumoto, Naomichi;
Yoshiura, Koh-Ichiro;
Fukushima, Yoshimitsu;
Jinno, Yoshihiro;
Niikawa, Norio

Publication type:

Article

Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 188, doi. 10.1002/(SICI)1098-1004(1997)9:2<188::AID-HUMU15>3.0.CO;2-Z

By:

Saad, Fawzy A.;
Mostacciuolo, Maria L.;
Trevisan, Carlo P.;
Tomelleri, Giuliano;
Angelini, Corrado;
Salam, Ekram Abdel;
Danieli, Gian Antonio

Publication type:

Article

Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 97, doi. 10.1002/(SICI)1098-1004(1997)9:2<97::AID-HUMU1>3.0.CO;2-M

By:

Eng, Charis;
Mulligan, Lois M.

Publication type:

Article

Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 131, doi. 10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C

By:

Ikegawa, Shiro;
Nakamura, Kozo;
Nagano, Akira;
Haga, Nobuhiko;
Nakamura, Yusuke

Publication type:

Article

Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 164, doi. 10.1002/(SICI)1098-1004(1997)9:2<164::AID-HUMU9>3.0.CO;2-9

By:

Sasaki, Shin;
Tokino, Takashi;
Miyatsu, Takashi;
Muto, Tetsuichiro;
Nakamura, Yusuke

Publication type:

Article

Introduction of a myc reporter tag to improve the quality of mutation detection using the protein truncation test.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 172, doi. 10.1002/(SICI)1098-1004(1997)9:2<172::AID-HUMU10>3.0.CO;2-#

By:

Rowan, Andrew J.;
Bodmer, Walter F.

Publication type:

Article

Startle disease in an Italian family by mutation (K276E): The α-subunit of the inhibiting glycine receptor.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 185, doi. 10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO;2-Z

By:

Seri, Marco;
Bolino, Alessandra;
Galietta, Luis Juan Vicente;
Lerone, Margherita;
Silengo, Margherita;
Romeo, Giovanni

Publication type:

Article

Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 122, doi. 10.1002/(SICI)1098-1004(1997)9:2<122::AID-HUMU4>3.0.CO;2-B

By:

Nissen, Henrik;
Petersen, Niels Erik;
Mustajoki, Sami;
Hansen, Torben Stiig;
Mustajoki, Pertti;
Kauppinen, Raili;
Hørder, Mogens

Publication type:

Article

Three germline mutations in the TP53 gene.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 157, doi. 10.1002/(SICI)1098-1004(1997)9:2<157::AID-HUMU8>3.0.CO;2-6

By:

Cornelis, RS;
van Vliet, M;
van de Vijver, MJ;
Vasen, HFA;
Voute, PA;
Top, B;
Khan, P. Meera;
Devilee, P;
Cornelisse, CJ

Publication type:

Article

Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 183, doi. 10.1002/(SICI)1098-1004(1997)9:2<183::AID-HUMU13>3.0.CO;2-Z

By:

Zielenski, J;
Patrizio, P;
Markiewicz, D;
Asch, RH;
Tsui, L-C

Publication type:

Article

Mutations in purine nucleoside phosphorylase deficiency.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 118, doi. 10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5

By:

Markert, M. Louise;
Finkel, Bruce D.;
McLaughlin, Tanya M.;
Watson, TJ;
Collard, Harold R.;
McMahon, Connette P.;
Andrews, Lucy G.;
Barrett, Michael J.;
Ward, Frances E.

Publication type:

Article

Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 148, doi. 10.1002/(SICI)1098-1004(1997)9:2<148::AID-HUMU7>3.0.CO;2-5

By:

Körkkö, Jarmo;
Kuivaniemi, Helena;
Paassilta, Petteri;
Zhuang, Jiapiao;
Tromp, Gerard;
DePaepe, Anne;
Prockop, Darwin J.;
Ala-Kokko, Leena

Publication type:

Article