Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

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 ◽

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 ◽

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 ◽

1.P.274 Identification of a new mutation in exon 4 of the low density lipoprotein receptor gene in patients with familial hypercholesterolemia in Spain

Atherosclerosis ◽

10.1016/s0021-9150(97)88452-3 ◽

1997 ◽

Vol 134 (1-2) ◽

pp. 74

Author(s):

J.C. Vallvé ◽

C. Alonso-Villaverde ◽

J. Margalef ◽

J. Ribalta ◽

L. Masana

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

New Mutation ◽

Density Lipoprotein Receptor ◽

Exon 4

UPDATE AND ANALYSIS OF THE UCL LOW DENSITY LIPOPROTEIN RECEPTOR GENE (LDLR) FAMILIAL HYPERCHOLESTEROLEMIA (FH) DATABASE

Atherosclerosis Supplements ◽

10.1016/s1567-5688(08)70432-x ◽

2008 ◽

Vol 9 (1) ◽

pp. 107-108 ◽

Cited By ~ 1

Author(s):

S.E. Leigh ◽

R.A. Whittall ◽

C.S. Hubbart ◽

S.E. Humphries

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Identification of a New Mutation, S305C, in Exon 7 of the Low-Density Lipoprotein Receptor Gene in a Brazilian Family with Homozygous Familial Hypercholesterolemia

Genetic Testing ◽

10.1089/109065703321560994 ◽

2003 ◽

Vol 7 (1) ◽

pp. 77-79 ◽

Cited By ~ 2

Author(s):

Laura van de Kerkhof ◽

Silvia J. Van Eijk ◽

Joep C. Defesche ◽

José-Ernesto Dos-Santos

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

New Mutation ◽

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent

Human Mutation ◽

10.1002/humu.1205 ◽

2001 ◽

Vol 18 (4) ◽

pp. 359-359 ◽

Cited By ~ 20

Author(s):

Jian Wang ◽

Erin Huff ◽

Lenny Janecka ◽

Robert A. Hegele

Keyword(s):

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

Annals of Human Genetics ◽

10.1111/j.1469-1809.2012.00724.x ◽

2012 ◽

Vol 76 (5) ◽

pp. 387-401 ◽

Cited By ~ 127

Author(s):

Ebele Usifo ◽

Sarah E. A. Leigh ◽

Ros A. Whittall ◽

Nicholas Lench ◽

Alison Taylor ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Variant Database ◽

Pathological Assessment