Works matching IS 10597794 AND DT 1997 AND VI 10 AND IP 5

Results: 12

APC mutations in familial adenomatous polyposis families in the Northwest of England.

Published in:

Human Mutation, 1997, v. 10, n. 5, p. 376, doi. 10.1002/(SICI)1098-1004(1997)10:5<376::AID-HUMU7>3.0.CO;2-D

By:

Armstrong, John G.;
Davies, D. Rhodri;
Guy, Simon P.;
Frayling, Ian M.;
Evans, D. Gareth R.

Publication type:

Article

Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients.

Published in:

Human Mutation, 1997, v. 10, n. 5, p. 387, doi. 10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.0.CO;2-C

By:

Casals, T;
Pacheco, P;
Barreto, C;
Giménez, J;
Ramos, MD;
Pereira, S;
Pinheiro, JA;
Cobos, N;
Curvelo, A;
Vázquez, C;
Rocha, H;
Séculi, JL;
Pérez, E;
Dapena, J;
Carrilho, E;
Duarte, A;
Palacio, AM;
Nunes, V;
Lavinha, J;
Estivill, X

Publication type:

Article

Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa.

Published in:

Human Mutation, 1997, v. 10, n. 5, p. 408, doi. 10.1002/(SICI)1098-1004(1997)10:5<408::AID-HUMU12>3.0.CO;2-3

By:

Christiano, Angela M.;
Hoffman, Guy G.;
Zhang, Xin;
Xu, Yili;
Tamai, Yoshiko;
Greenspan, Daniel S.;
Uitto, Jouni

Publication type:

Article

Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1).

Published in:

Human Mutation, 1997, v. 10, n. 5, p. 338, doi. 10.1002/(SICI)1098-1004(1997)10:5<338::AID-HUMU2>3.0.CO;2-B

By:

Järvikallio, Anitta;
Pulkkinen, Leena;
Uitto, Jouni

Publication type:

Article

SSCP analysis of long DNA fragments in low pH gel.

Published in:

Human Mutation, 1997, v. 10, n. 5, p. 400, doi. 10.1002/(SICI)1098-1004(1997)10:5<400::AID-HUMU11>3.0.CO;2-3

By:

Kukita, Yoji;
Tahira, Tomoko;
Sommer, Steve S.;
Hayashi, Kenshi

Publication type:

Article

Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value.

Published in:

Human Mutation, 1997, v. 10, n. 5, p. 348, doi. 10.1002/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B

By:

Boot, Rolf G.;
Hollak, Carla E. M.;
Verhoek, Marri;
Sloof, Paul;
Poorthuis, Ben J. H. M.;
Kleijer, Wim J.;
Wevers, Ron A.;
van Oers, Marinus H. J.;
Mannens, Marcel M. A. M.;
Aerts, Johannes M. F. G.;
van Weely, Sonja

Publication type:

Article

Imprinting mutations on human chromosome 15.

Published in:

Human Mutation, 1997, v. 10, n. 5, p. 329, doi. 10.1002/(SICI)1098-1004(1997)10:5<329::AID-HUMU1>3.0.CO;2-A

By:

Horsthemke, Bernhard;
Dittrich, Bärbel;
Buiting, Karin

Publication type:

Article

Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele.

Published in:

Human Mutation, 1997, v. 10, n. 5, p. 361, doi. 10.1002/(SICI)1098-1004(1997)10:5<361::AID-HUMU5>3.0.CO;2-I

By:

Sukegawa, Kazuko;
Song, Xiang-Qian;
Masuno, Mitsuo;
Fukao, Toshiyuki;
Shimozawa, Nobuyuki;
Fukuda, Seiji;
Isogai, Koji;
Nishio, Hisahide;
Matsuo, Masafumi;
Tomatsu, Shunji;
Kondo, Naomi;
Orii, Tadao

Publication type:

Article

Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome.

Published in:

Human Mutation, 1997, v. 10, n. 5, p. 393, doi. 10.1002/(SICI)1098-1004(1997)10:5<393::AID-HUMU10>3.0.CO;2-V

By:

Wang, Yi-Chun;
Lin, Mei-Ling;
Lin, Shio Jean;
Li, Yueh-Chun;
Li, Shuan-Yow

Publication type:

Article

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.

Published in:

Human Mutation, 1997, v. 10, n. 5, p. 368, doi. 10.1002/(SICI)1098-1004(1997)10:5<368::AID-HUMU6>3.0.CO;2-B

By:

Tomatsu, Shunji;
Fukuda, Seiji;
Cooper, Alan;
Wraith, James E.;
Ferreira, Patrick;
Di Natale, Paola;
Tortora, Paolo;
Fujimoto, Atsuko;
Kato, Zenichiro;
Yamada, Naoto;
Isogai, Kouji;
Yamagishi, Atsushi;
Sukegawa, Kazuko;
Suzuki, Yasuyuki;
Shimozawa, Nobuyuki;
Kondo, Naomi;
Sly, William S.;
Orii, Tadao

Publication type:

Article

Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the β-hexosaminidase α-chain gene in two Portuguese patients.

Published in:

Human Mutation, 1997, v. 10, n. 5, p. 359, doi. 10.1002/(SICI)1098-1004(1997)10:5<359::AID-HUMU4>3.0.CO;2-A

By:

Ribeiro, M. Gil;
Pinto, Rui A.;
Suzuki, Kunihiko;
Sá Miranda, Maria C.

Publication type:

Article

Analysis of multiple mitochondrial DNA deletions in inclusion body myositis.

Published in:

Human Mutation, 1997, v. 10, n. 5, p. 381, doi. 10.1002/(SICI)1098-1004(1997)10:5<381::AID-HUMU8>3.0.CO;2-I

By:

Moslemi, Ali-Reza;
Lindberg, Christopher;
Oldfors, Anders

Publication type:

Article