A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews

Eran Leitersdorf; Ayeleth Reshef; Vardiella Meiner; Eldad J. Dann; Yitzhak Beigel; Frans Graadt van Roggen; Deneys R. van der Westhuyzen; Gerhard A. Coetzee

doi:10.1007/bf00222714

A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews

Human Genetics ◽

10.1007/bf00222714 ◽

1993 ◽

Vol 91 (2) ◽

pp. 141-147 ◽

Cited By ~ 25

Author(s):

Eran Leitersdorf ◽

Ayeleth Reshef ◽

Vardiella Meiner ◽

Eldad J. Dann ◽

Yitzhak Beigel ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Missense Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Sephardic Jews ◽

Density Lipoprotein Receptor

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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):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

New Mutation ◽

Density Lipoprotein Receptor ◽

Exon 4

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A new missense mutation (Cys297?Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste)

Human Genetics ◽

10.1007/bf00202819 ◽

1994 ◽

Vol 93 (5) ◽

Cited By ~ 2

Author(s):

N. Lelli ◽

R. Garuti ◽

P. Pedrazzi ◽

M. Ghisellini ◽

M.L. Simone ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Missense Mutation ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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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):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

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):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Low Density Lipoprotein Receptor ◽

New Mutation ◽

Density Lipoprotein Receptor

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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):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Variant Database ◽

Pathological Assessment

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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):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Large Rearrangements ◽

Detection Of Mutations

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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):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects

Clinical Genetics ◽

10.1111/j.1399-0004.1992.tb03258.x ◽

2008 ◽

Vol 42 (6) ◽

pp. 288-295 ◽

Cited By ~ 5

Author(s):

Olaug K. Rødningen ◽

Oddveig Røshy ◽

Serena Tonstad ◽

Leiv Ose ◽

Kåre Berg ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

Mutations of the low-density-lipoprotein receptor gene and familial hypercholesterolemia

Trends in Endocrinology and Metabolism ◽

10.1016/1043-2760(94)p3083-j ◽

1994 ◽

Vol 5 (6) ◽

pp. 245-249 ◽

Cited By ~ 1

Author(s):

Neil S. Shachter ◽

Judah Weinberger

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

Two Novel Slavic Point Mutations in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg, Russia

Molecular Genetics and Metabolism ◽

10.1006/mgme.1997.2614 ◽

1998 ◽

Vol 63 (1) ◽

pp. 31-34 ◽

Cited By ~ 6

Author(s):

Chakir Kh. ◽

Natalia A. Skobeleva ◽

Sergei P. Shevtsov ◽

Vladimir O. Konstantinov ◽

Alexander D. Denisenko ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Point Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text