A case of familial hypercholesterolemia caused by a novel mutation D461Y in the low density lipoprotein receptor gene

Authors
Krapivner, SR Malyshev, PP Poltaraus, AB Kukharchuk, VV Bochkov, VN
Citation
Sr. Krapivner et al., A case of familial hypercholesterolemia caused by a novel mutation D461Y in the low density lipoprotein receptor gene, KARDIOLOGIY, 41(1), 2001, pp. 92-94
Citations number
13
Categorie Soggetti
Cardiovascular & Respiratory Systems
Journal title
KARDIOLOGIYA
ISSN journal
00229040 → ACNP
Volume
41
Issue
1
Year of publication
2001
Pages
92 - 94
Database
ISI
SICI code
0022-9040(2001)41:1<92:ACOFHC>2.0.ZU;2-D
Abstract
A missense mutation was found in the tenth exon of the low density lipoprot ein receptor gene of a patient with familial hypercholesterolemia. This mut ation caused replacement of aspartate with tyrosine at position 461. The ch aracter of amino acid substitution allowed to suggest that the mutation res ulted in deranged receptor function and accounted for hypercholesterolemia.