The UMD-LDLR database: additions to the software and 490 new entries to the database-Reference-Cited by-同舟云学术

The UMD-LDLR database: additions to the software and 490 new entries to the database

Published:2002-08 Issue:2 Volume:20 Page:81-87
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Villéger Ludovic,Abifadel Marianne,Allard Delphine,Rabès Jean-Pierre,Thiart Rochelle,Kotze Maritha J.,Béroud Christophe,Junien Claudine,Boileau Catherine,Varret Mathilde

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Recommendations for a nomenclature system for human gene mutations;Antonarakis;Hum Mutat,1998

2. Identification of two LDL-receptor mutations causing familial hypercholesterolemia in Indian subjects by a simplified rapid PCR- heteroduplex method;Ashavaid;Clin Chem,2000

3. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion;Den Dunnen;Hum Mutat,2000

4. Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X;Genschel;Hum Mutat,2001

5. Receptor-mediated endocytosis: concepts emerging from the LDL receptor system;Goldstein;Annu Rev Cell Biol,1985

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