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

Results: 11

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