Volume 6; Issue 4

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Human Mutation
Volume 6; Issue 4

Human Mutation

Volume 6; Issue 4

1

Masthead

Journal:

Year:

1995

Language:

english

File:

PDF, 98 KB

english, 1995

2

Applications of heteroduplex analysis for mutation detection in disease genes

Damjan Glavac, Michael Dean

Journal:

Year:

1995

Language:

english

File:

PDF, 691 KB

english, 1995

3

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 1.25 MB

english, 1995

4

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 728 KB

english, 1995

5

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 1.30 MB

english, 1995

6

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

Martin J. Schwarz, Geraldine M. Malone, Andrea Haworth, Jeremy P. Cheadle, A. Linda Meredith, Anne Gardner, I. Hilary Sawyer, Margaret Connarty, Nick Dennis, Anneke Seller, Ann Harris, Rohan Taylor, S

Journal:

Year:

1995

Language:

english

File:

PDF, 759 KB

english, 1995

7

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 194 KB

english, 1995

8

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 668 KB

english, 1995

9

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

Paola Riva, Nicoletta Milani, Paola Gandolfi, Lidia Larizza

Journal:

Year:

1995

Language:

english

File:

PDF, 252 KB

english, 1995

10

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

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

Journal:

Year:

1995

Language:

english

File:

PDF, 261 KB

english, 1995

11

Mutations of butyrylcholinesterase gene in a family with hypocholinesterasemia

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

Journal:

Year:

1995

Language:

english

File:

PDF, 208 KB

english, 1995

12

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

Edward H. Schuchman

Journal:

Year:

1995

Language:

english

File:

PDF, 232 KB

english, 1995

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