Independent Severe Cases of Heterozygous Familial Hypercholesterolemia Caused by the W483X and Novel W483G Mutations in the Low-Density Lipoprotein Receptor Gene That Were Clinically Diagnosed as Homozygous Cases

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 ◽

Polymorphisms of the low-density lipoprotein receptor gene in Brazilian individuals with heterozygous familial hypercholesterolemia

Brazilian Journal of Medical and Biological Research ◽

10.1590/s0100-879x2000001100006 ◽

2000 ◽

Vol 33 (11) ◽

pp. 1301-1304 ◽

Cited By ~ 8

Author(s):

L.A. Salazar ◽

S.A. Cavalli ◽

M.H. Hirata ◽

J. Diament ◽

N. Forti ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia

Human Mutation ◽

10.1002/(sici)1098-1004(1996)8:4<326::aid-humu5>3.0.co;2-5 ◽

1996 ◽

Vol 8 (4) ◽

pp. 326-332 ◽

Cited By ~ 6

Author(s):

Ulla-Maija Koivisto ◽

Kimmo Kontula

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

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 ◽

A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.91.22.10526 ◽

1994 ◽

Vol 91 (22) ◽

pp. 10526-10530 ◽

Cited By ~ 63

Author(s):

U. M. Koivisto ◽

J. J. Palvimo ◽

O. A. Janne ◽

K. Kontula

Keyword(s):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Base Substitution ◽

Low Density ◽

Lipoprotein Receptor ◽

Single Base ◽

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 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

Detection of Mutations and Large Rearrangements of the Low-Density Lipoprotein Receptor Gene in Taiwanese Patients With Familial Hypercholesterolemia

The American Journal of Cardiology ◽

10.1016/j.amjcard.2010.01.356 ◽

2010 ◽

Vol 105 (12) ◽

pp. 1752-1758 ◽

Cited By ~ 31

Author(s):

Kuan-Rau Chiou ◽

Min-Ji Charng

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Large Rearrangements ◽

Detection Of Mutations

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 ◽