Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia.
about
Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.The distribution and characteristics of LDL receptor mutations in China: A systematic reviewIdentification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family.Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.
P2860
Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մարտին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Functional characterization of ...... familial hypercholesterolemia.
@ast
Functional characterization of ...... familial hypercholesterolemia.
@en
type
label
Functional characterization of ...... familial hypercholesterolemia.
@ast
Functional characterization of ...... familial hypercholesterolemia.
@en
prefLabel
Functional characterization of ...... familial hypercholesterolemia.
@ast
Functional characterization of ...... familial hypercholesterolemia.
@en
P2093
P2860
P1433
P1476
Functional characterization of ...... familial hypercholesterolemia.
@en
P2093
Haihong Wang
Liyuan Sun
Shengyuan Xu
Shiwei Yang
Xiaodong Pan
P2860
P304
P356
10.1371/JOURNAL.PONE.0092703
P407
P577
2014-03-26T00:00:00Z