A novel mutation 347delGCC in the human low density lipoprotein receptor gene

Authors
Mandelshtam, MJ Golubkov, VI Schur, YA Lipovetsky, BM Gaitskhoki, VS
Citation
Mj. Mandelshtam et al., A novel mutation 347delGCC in the human low density lipoprotein receptor gene, BIOORG KHIM, 24(10), 1998, pp. 798-800
Citations number
10
Categorie Soggetti
Chemistry & Analysis
Journal title
BIOORGANICHESKAYA KHIMIYA
ISSN journal
01323423 → ACNP
Volume
24
Issue
10
Year of publication
1998
Pages
798 - 800
Database
ISI
SICI code
0132-3423(199810)24:10<798:ANM3IT>2.0.ZU;2-#
Abstract
A novel mutation (347delGCC) in the human low density lipoprotein receptor gene was found in a patient with a clinical diagnosis of familial hyperchol esterolemia.