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