Works matching IS 10597794 AND DT 1997 AND VI 10 AND IP 2

Results: 12

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.

Published in:

Human Mutation, 1997, v. 10, n. 2, p. 100, doi. 10.1002/(SICI)1098-1004(1997)10:2<100::AID-HUMU2>3.0.CO;2-O

By:

Concannon, Patrick;
Gatti, Richard A.

Publication type:

Article

Novel mutations of the tyrosinase ( TYR) gene in type I oculocutaneous albinism (OCA1).

Published in:

Human Mutation, 1997, v. 10, n. 2, p. 171, doi. 10.1002/(SICI)1098-1004(1997)10:2<171::AID-HUMU11>3.0.CO;2-X

By:

Spritz, Richard A.;
Oh, Jangsuk;
Fukai, Kazuyoshi;
Holmes, Stuart A.;
Ho, Lingling;
Chitayat, David;
France, Thomas D.;
Musarella, Maria A.;
Orlow, Seth J.;
Schnur, Rhonda E.;
Weleber, Richard G.;
Levin, Alex V.

Publication type:

Article

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations.

Published in:

Human Mutation, 1997, v. 10, n. 2, p. 135, doi. 10.1002/(SICI)1098-1004(1997)10:2<135::AID-HUMU6>3.0.CO;2-J

By:

Estivill, Xavier;
Bancells, Consol;
Ramos, Cristina

Publication type:

Article

Molecular basis of HNPCC: Mutations of MMR genes.

Published in:

Human Mutation, 1997, v. 10, n. 2, p. 89, doi. 10.1002/(SICI)1098-1004(1997)10:2<89::AID-HUMU1>3.0.CO;2-H

By:

Papadopoulos, Nickolas;
Lindblom, Annika

Publication type:

Article

Identification of a new mutation of the myosin VII head region in Usher syndrome type 1.

Published in:

Human Mutation, 1997, v. 10, n. 2, p. 168, doi. 10.1002/(SICI)1098-1004(1997)10:2<168::AID-HUMU10>3.0.CO;2-Y

By:

Liu, Xue-zhong;
Newton, Valerie E.;
Steel, Karen P.;
Brown, Steve D. M.

Publication type:

Article

Glycogenosis type II: A juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.

Published in:

Human Mutation, 1997, v. 10, n. 2, p. 128, doi. 10.1002/(SICI)1098-1004(1997)10:2<128::AID-HUMU5>3.0.CO;2-G

By:

Adams, Elizabeth M.;
Becker, Jeffrey A.;
Griffith, Linda;
Segal, Ava;
Plotz, Paul H.;
Raben, Nina

Publication type:

Article

Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.

Published in:

Human Mutation, 1997, v. 10, n. 2, p. 164, doi. 10.1002/(SICI)1098-1004(1997)10:2<164::AID-HUMU9>3.0.CO;2-K

By:

Turco, Alberto E.;
Rossetti, Sandro;
Bresin, Elena;
Englisch, Sabine;
Corrà, Stefano;
Pignatti, Pier Franco

Publication type:

Article

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

Published in:

Human Mutation, 1997, v. 10, n. 2, p. 116, doi. 10.1002/(SICI)1098-1004(1997)10:2<116::AID-HUMU4>3.0.CO;2-I

By:

Day, INM;
Whittall, RA;
O'Dell, SD;
Haddad, L;
Bolla, MK;
Gudnason, V;
Humphries, SE

Publication type:

Article

Familial ligand-defective apolipoprotein B-100: Simultaneous detection of the ARG<sub>3500</sub>→GLN and ARG<sub>3531</sub>→CYS mutations in a French population.

Published in:

Human Mutation, 1997, v. 10, n. 2, p. 160, doi. 10.1002/(SICI)1098-1004(1997)10:2<160::AID-HUMU8>3.0.CO;2-O

By:

Rabès, JP;
Varret, M;
Saint-Jore, B;
Erlich, D;
Jondeau, G;
Krempf, M;
Giraudet, P;
Junien, C;
Boileau, C

Publication type:

Article

Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease.

Published in:

Human Mutation, 1997, v. 10, n. 2, p. 108, doi. 10.1002/(SICI)1098-1004(1997)10:2<108::AID-HUMU3>3.0.CO;2-G

By:

Friedman, Kenneth J.;
Heim, Ruth A.;
Knowles, Michael R.;
Silverman, Lawrence M.

Publication type:

Article

Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.

Published in:

Human Mutation, 1997, v. 10, n. 2, p. 155, doi. 10.1002/(SICI)1098-1004(1997)10:2<155::AID-HUMU7>3.0.CO;2-J

By:

Peretz, Hava;
Luboshitsky, Rafael;
Baron, Ela;
Biton, Amnon;
Gershoni, Ruth;
Usher, Saly;
Grynberg, Elisheva;
Yakobson, Emanuel;
Graff, Eran;
Lapidot, Mordechai

Publication type:

Article

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).

Published in:

Human Mutation, 1997, v. 10, n. 2, p. 175, doi. 10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X

By:

Spritz, Richard A.;
Lee, Seung-Taek;
Fukai, Kazuyoshi;
Brondum-Nielsen, Karen;
Chitayat, David;
Lipson, Mark H.;
Musarella, Maria A.;
Rosenmann, Ada;
Weleber, Richard G.

Publication type:

Article