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

Mutations in the LDL receptor gene (LDLR) cause familial hypercholesterolemia (FH), one of the most frequent hereditary dominant disorders. The protein defect was identified in 1973, the gene was localized by in situ hybridization in 1985, and since, a growing number of mutations have been reported....

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Veröffentlicht in:	Human mutation 2002-08, Vol.20 (2), p.81-87
Hauptverfasser:	Villéger, Ludovic, Abifadel, Marianne, Allard, Delphine, Rabès, Jean‐Pierre, Thiart, Rochelle, Kotze, Maritha J., Béroud, Christophe, Junien, Claudine, Boileau, Catherine, Varret, Mathilde
Format:	Artikel
Sprache:	eng
Schlagworte:	Databases, Genetic - trends familial hypercholesterolemia Genes - genetics Humans Hyperlipoproteinemia Type II - etiology Hyperlipoproteinemia Type II - genetics LDLR Mutation - genetics mutations Receptors, LDL - genetics Software Terminology as Topic
Online-Zugang:	Volltext
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