Works matching IS 10597794 AND DT 1995 AND VI 6 AND IP 4

Results: 12

Twenty-five novel mutations of the factor IX gene in haemophilia B.

Published in:

Human Mutation, 1995, v. 6, n. 4, p. 346, doi. 10.1002/humu.1380060410

By:

Wulff, Karin;
Schröder, Winnie;
Wehnert, Manfred;
Herrmann, Falko H.

Publication type:

Article

Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications.

Published in:

Human Mutation, 1995, v. 6, n. 4, p. 288, doi. 10.1002/humu.1380060403

By:

Scott, Hamish S.;
Bunge, Susanna;
Gal, Andreas;
Clarke, Lome A.;
Morris, C. Phillip;
Hopwood, John J.

Publication type:

Article

French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism.

Published in:

Human Mutation, 1995, v. 6, n. 4, p. 334, doi. 10.1002/humu.1380060407

By:

Dorval, Ian;
Jézéquel, Pascal;
Chauvel, Bruno;
Dubourg, Christèle;
Fergelot, Patricia;
Le Gall, Jean Yves;
Roussey, Michel;
Blayau, Martine

Publication type:

Article

Applications of heteroduplex analysis for mutation detection in disease genes.

Published in:

Human Mutation, 1995, v. 6, n. 4, p. 281, doi. 10.1002/humu.1380060402

By:

Glavac, Damjan;
Dean, Michael

Publication type:

Article

Mutations of butyrylcholinesterase gene in a family with hypocholinesterasemia.

Published in:

Human Mutation, 1995, v. 6, n. 4, p. 349, doi. 10.1002/humu.1380060411

By:

Iida, Sayomi;
Kinoshita, Masahiro;
Fujii, Hiroshi;
Moriyama, Yasuhiro;
Nakamura, Yasushi;
Yura, Noboru;
Moriwaki, Kaname

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1995, v. 6, n. 4, p. fmi, doi. 10.1002/humu.1380060401
Publication type:: Article

Two new mutations in the acid sphingomyelinase gene causing type a Niemann-Pick disease: N389T and R441X.

Published in:

Human Mutation, 1995, v. 6, n. 4, p. 352, doi. 10.1002/humu.1380060412

By:

Schuchman, Edward H.

Publication type:

Article

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations.

Published in:

Human Mutation, 1995, v. 6, n. 4, p. 311, doi. 10.1002/humu.1380060405

By:

Brown, Michael D.;
Torroni, Antonio;
Reckord, Calvin L.;
Wallace, Douglas C.

Publication type:

Article

A 12-bp deletion ( 7818del12 ) in the c- kit protooncogene in a large Italian kindred with piebaldism.

Published in:

Human Mutation, 1995, v. 6, n. 4, p. 343, doi. 10.1002/humu.1380060409

By:

Riva, Paola;
Milani, Nicoletta;
Gandolfi, Paola;
Larizza, Lidia

Publication type:

Article

Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories.

Published in:

Human Mutation, 1995, v. 6, n. 4, p. 326, doi. 10.1002/humu.1380060406

By:

Schwarz, Martin J.;
Malone, Geraldine M.;
Haworth, Andrea;
Cheadle, Jeremy P.;
Meredith, A. Linda;
Gardner, Anne;
Sawyer, I. Hilary;
Connarty, Margaret;
Dennis, Nick;
Seller, Anneke;
Harris, Ann;
Taylor, Rohan;
Dear, Simon;
Middleton-Price, Helen;
McMahon, Cathie;
Mayall, Ed;
McMahon, Rob;
Barton, David E.;
Giles, Martin;
Lindley, Victoria

Publication type:

Article

Analysis of mutational changes at the HLA locus in single human sperm.

Published in:

Human Mutation, 1995, v. 6, n. 4, p. 303, doi. 10.1002/humu.1380060404

By:

Huang, Mei-Mei;
Erlich, Henry A.;
Goodman, Myron F.;
Arnheim, Norman

Publication type:

Article

Efficient strategy for the detection of mutations in acrogeric Ehlers-danlos syndrome type IV.

Published in:

Human Mutation, 1995, v. 6, n. 4, p. 336, doi. 10.1002/humu.1380060408

By:

Johnson, P. H.;
Richards, A. J.;
Lloyd, J. C.;
Pope, F. M.;
Hopkinson, D. A.

Publication type:

Article