Volume 1; Issue 6

Main
Human Mutation
Volume 1; Issue 6

Human Mutation

Volume 1; Issue 6

1

Masthead

Journal:

Year:

1992

Language:

english

File:

PDF, 85 KB

english, 1992

2

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

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

Journal:

Year:

1992

Language:

english

File:

PDF, 1.61 MB

english, 1992

3

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

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

Journal:

Year:

1992

Language:

english

File:

PDF, 605 KB

english, 1992

4

Molecular analysis of neurofibromatosis type 1 mutations

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

Journal:

Year:

1992

Language:

english

File:

PDF, 377 KB

english, 1992

5

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

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

Journal:

Year:

1992

Language:

english

File:

PDF, 688 KB

english, 1992

6

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

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

Journal:

Year:

1992

Language:

english

File:

PDF, 438 KB

english, 1992

7

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

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

Journal:

Year:

1992

Language:

english

File:

PDF, 795 KB

english, 1992

8

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

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

Journal:

Year:

1992

Language:

english

File:

PDF, 152 KB

english, 1992

9

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

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

Journal:

Year:

1992

Language:

english

File:

PDF, 245 KB

english, 1992

10

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

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

Journal:

Year:

1992

Language:

english

File:

PDF, 266 KB

english, 1992

11

Announcement

Journal:

Year:

1992

Language:

english

File:

PDF, 49 KB

english, 1992

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски