A World Wide Web Site for Low-Density Lipoprotein Receptor Gene Mutations in Familial Hypercholesterolemia: Sequence-Based, Tabular, and Direct Submission Data Handling

World Wide ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Data Handling ◽

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 ◽

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 ◽

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

Atherosclerosis ◽

10.1016/s0021-9150(97)89837-1 ◽

1997 ◽

Vol 134 (1-2) ◽

pp. 361

Author(s):

B. Raungaard ◽

F. Heath ◽

J.U. Brorholt-Petersen ◽

H.K. Jensen ◽

O. Faergeman

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Functional Characterization ◽

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 ◽

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

Journal of Clinical Investigation ◽

10.1172/jci114258 ◽

1989 ◽

Vol 84 (3) ◽

pp. 954-961 ◽

Cited By ~ 125

Author(s):

E Leitersdorf ◽

D R Van der Westhuyzen ◽

G A Coetzee ◽

H H Hobbs

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous familial hypercholesterolemia in a young woman with dual gene mutations of low-density lipoprotein receptor and proprotein convertase subtilisin/kexin type 9

Journal of Clinical Lipidology ◽

10.1016/j.jacl.2020.01.009 ◽

2020 ◽

Vol 14 (2) ◽

pp. 192-196

Author(s):

Patrizia Suppressa ◽

Concetta Carbonara ◽

Natasha Scialpi ◽

Alessandro Ciavarella ◽

Carlo Sabbà

Keyword(s):

Young Woman ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Proprotein Convertase ◽

Frequency of Low-Density Lipoprotein Receptor Gene Mutations in Patients With a Clinical Diagnosis of Familial Combined Hyperlipidemia in a Clinical Setting

Journal of the American College of Cardiology ◽

10.1016/j.jacc.2008.06.050 ◽

2008 ◽

Vol 52 (19) ◽

pp. 1546-1553 ◽

Cited By ~ 52

Author(s):

Fernando Civeira ◽

Estibaliz Jarauta ◽

Ana Cenarro ◽

Angel L. García-Otín ◽

Diego Tejedor ◽

...

Keyword(s):

Clinical Diagnosis ◽

Clinical Setting ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Familial Combined Hyperlipidemia ◽

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