4.P.309 Functional characterization of low density lipoprotein receptor gene mutations in patients with familial hypercholesterolemia

Receptor Gene ◽

Low Density Lipoprotein ◽

Functional Characterization ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Functional Characterization of Two Low-Density Lipoprotein Receptor Gene Mutations in Two Chinese Patients with Familial Hypercholesterolemia

PLoS ONE ◽

10.1371/journal.pone.0092703 ◽

2014 ◽

Vol 9 (3) ◽

pp. e92703 ◽

Cited By ~ 16

Author(s):

Haihong Wang ◽

Shengyuan Xu ◽

Liyuan Sun ◽

Xiaodong Pan ◽

Shiwei Yang ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Functional Characterization ◽

Gene Mutations ◽

Density Lipoprotein ◽

Chinese Patients ◽

Low Density ◽

Lipoprotein Receptor ◽

Functional characterization of two low density lipoprotein receptor gene mutations by fluorescence flow cytometric assessment of receptor activity in stimulated human T-lymphocytes

Clinical Genetics ◽

10.1034/j.1399-0004.2000.570204.x ◽

2000 ◽

Vol 57 (2) ◽

pp. 110-115 ◽

Cited By ~ 3

Author(s):

Bent Raungaard ◽

Henrik Kjaerulf Jensen ◽

Jens Uffe Brorholt-Petersen ◽

Finn Heath ◽

Ole Faergeman

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Functional Characterization ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Flow Cytometric ◽

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

Clinical Genetics ◽

10.1034/j.1399-0004.2000.580202.x ◽

2001 ◽

Vol 58 (2) ◽

pp. 98-105 ◽

Cited By ~ 32

Author(s):

Kl Khoo ◽

P Van Acker ◽

Jc Defesche ◽

H Tan ◽

L Van De Kerkhof ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Asian Population ◽

Low Density ◽

Lipoprotein Receptor ◽

Southeast Asian Population ◽

Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia.

Arteriosclerosis and Thrombosis A Journal of Vascular Biology ◽

10.1161/01.atv.11.2.234 ◽

1991 ◽

Vol 11 (2) ◽

pp. 234-243 ◽

Cited By ~ 13

Author(s):

N Lelli ◽

M Ghisellini ◽

R Gualdi ◽

R Tiozzo ◽

S Calandra ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia

Human Mutation ◽

10.1002/humu.1380040203 ◽

1994 ◽

Vol 4 (2) ◽

pp. 102-113 ◽

Cited By ~ 22

Author(s):

Henrik K. Jensen ◽

Thomas G. Jensen ◽

Lillian G. Jensen ◽

Peter S. Hansen ◽

Margrethe Kjeldsen ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Heterozygous Familial Hypercholesterolemia ◽

Two Novel Low-Density Lipoprotein Receptor Gene Mutations (E397X and 347delGCC) in St. Petersburg Familial Hypercholesterolemia

Molecular Genetics and Metabolism ◽

10.1006/mgme.1998.2762 ◽

1998 ◽

Vol 65 (4) ◽

pp. 311-314 ◽

Cited By ~ 4

Author(s):

Chakir Kh. ◽

Mandelshtam M. Ju ◽

S.P. Shevtsov ◽

V.I. Golubkov ◽

N.A. Skobeleva ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Characterization of two low density lipoprotein receptor (LDLR) gene mutations in Tunisian familial hypercholesterolemia

Atherosclerosis Supplements ◽

10.1016/s1567-5688(02)80660-2 ◽

2002 ◽

Vol 3 (2) ◽

pp. 208

Keyword(s):

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

Low-density lipoprotein receptor gene mutations diagnose familial hypercholesterolemia

Nature Reviews Cardiology ◽

10.1038/ncpcardio1428 ◽

2009 ◽

Vol 6 (3) ◽

pp. 161-162

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Erratum to “Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia” [Mol. Genet. Metab. 65 (1998) 311–314]

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2005.02.001 ◽

2005 ◽

Vol 85 (1) ◽

pp. 81

Author(s):

K. Chakir ◽

M.Ju. Mandelshtam ◽

S.P. Shevtsov ◽

V.I. Golubkov ◽

N.A. Skobeleva ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia

Human Mutation ◽

10.1002/humu.1380110174 ◽

1998 ◽

Vol 11 (S1) ◽

pp. S232-S233 ◽

Cited By ~ 2

Author(s):

Rochelle Thiart ◽

Odell Loubser ◽

J. Nico P. de Villiers ◽

Munro P. Marx ◽

Reinhardt Zaire ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽