Works matching IS 10597794 AND DT 1992 AND VI 1 AND IP 6

Results: 11

Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients.

Published in:

Human Mutation, 1992, v. 1, n. 6, p. 467, doi. 10.1002/humu.1380010603

By:

Nagase, Hiroki;
Miyoshi, Yasuo;
Horii, Akira;
Aoki, Takahisa;
Petersen, Gloria M.;
Vogelstein, Bert;
Maher, Eamonn;
Ogawa, Michio;
Maruyama, Masakazu;
Utsunomiya, Joji;
Baba, Shozo;
Nakamura, Yusuke

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1992, v. 1, n. 6, p. fmi, doi. 10.1002/humu.1380010601
Publication type:: Article

Announcement.

Published in:: Human Mutation, 1992, v. 1, n. 6, p. 515, doi. 10.1002/humu.1380010611
Publication type:: Article

Molecular analysis of neurofibromatosis type 1 mutations.

Published in:

Human Mutation, 1992, v. 1, n. 6, p. 474, doi. 10.1002/humu.1380010604

By:

Weiming, Xu;
Yu, Qi;
Lizhi, Liu;
Ponder, Margaret;
Wallace, Margaret;
Gangfeng, Xu;
Ponder, Bruce

Publication type:

Article

Two novel mutations responsible for hereditary type I protein C deficiency: Characterization by denaturing gradient gel electrophoresis.

Published in:

Human Mutation, 1992, v. 1, n. 6, p. 491, doi. 10.1002/humu.1380010607

By:

Gandrille, S.;
Vidaud, M.;
Aiach, M.;
Alhenc-Gelas, M.;
Fischer, A. M.;
Gouault-Heilman, M.;
Toulon, P.;
Fiessinger, J. N.;
Goossens, M.

Publication type:

Article

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.

Published in:

Human Mutation, 1992, v. 1, n. 6, p. 501, doi. 10.1002/humu.1380010608

By:

Macek, Milan;
Hamosh, Ada;
Kiesewetter, Sandra;
McIntosh, Iain;
Rosenstein, Beryl J.;
Cutting, Garry R.

Publication type:

Article

Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis.

Published in:

Human Mutation, 1992, v. 1, n. 6, p. 506, doi. 10.1002/humu.1380010610

By:

Jonsdottir, Sif;
Diamond, Carol;
Levinson, Barbara;
Magnusson, Sigmundur;
Jensson, Olafur;
Gitschier, Jane

Publication type:

Article

An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.

Published in:

Human Mutation, 1992, v. 1, n. 6, p. 486, doi. 10.1002/humu.1380010606

By:

Shore, Shirah;
Tomczak, Jerzy;
Grebner, Eugene E.;
Myerowitz, Rachel

Publication type:

Article

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

Published in:

Human Mutation, 1992, v. 1, n. 6, p. 445, doi. 10.1002/humu.1380010602

By:

Hobbs, Helen H.;
Brown, Michael S.;
Goldstein, Joseph L.

Publication type:

Article

Linkage studies and mutation analysis of the PDEB gene in 23 families with leber congenital amaurosis.

Published in:

Human Mutation, 1992, v. 1, n. 6, p. 478, doi. 10.1002/humu.1380010605

By:

Riess, Olaf;
Weber, Bernhard;
Noeremolle, Anne;
Shaikh, Rafig A.;
Hayden, Michael R.;
Musarella, Maria A.

Publication type:

Article

ΔF508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus.

Published in:

Human Mutation, 1992, v. 1, n. 6, p. 503, doi. 10.1002/humu.1380010609

By:

Constantinou-Deltas, C. D.;
Georgiou, Christina;
Ioannou, Panos;
Angastiniotis, Michael;
Aristodemou, Elena

Publication type:

Article