Two new large deletions in the low density lipoprotein receptor (LDLR) gene not revealed by PCR-based molecular diagnosis of familial hypercholesterolemia

Molecular Diagnosis ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

Large Deletions ◽

P348 MOLECULAR DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA (FH) IN GREECE. KNOWN AND NOVEL MUTATIONS IN THE LOW DENSITY LIPOPROTEIN RECEPTOR (LDLR) GENE

Atherosclerosis Supplements ◽

10.1016/s1567-5688(10)70415-3 ◽

2010 ◽

Vol 11 (2) ◽

pp. 90-91

Author(s):

V. Mollaki ◽

P. Progias ◽

A. Skouma ◽

E. Drogari

Keyword(s):

Molecular Diagnosis ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

Novel Mutations ◽

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 ◽

A rare low-density lipoprotein receptor (LDLR) gene mutation associated with heterozygous familial hypercholesterolemia

Clinica Chimica Acta ◽

10.1016/j.cca.2019.03.427 ◽

2019 ◽

Vol 493 ◽

pp. S205-S206

Author(s):

M. Ortiz Espejo ◽

R. Batanero Maguregui ◽

C. Montalban Carrasco ◽

M. Piedra León ◽

R. García Sardina ◽

...

Keyword(s):

Gene Mutation ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

Heterozygous Familial Hypercholesterolemia ◽

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 ◽

PO5-109 IDENTIFICATION OF TWO NEW LARGE DELETIONS IN THE LOW DENSITY LIPOPROTEIN RECEPTOR (LDLR) GENE IN THE FRENCH CANADIAN POPULATION

Atherosclerosis Supplements ◽

10.1016/s1567-5688(07)71119-4 ◽

2007 ◽

Vol 8 (1) ◽

pp. 44

Author(s):

L. Bernier ◽

L. Boulet ◽

M. Roy ◽

R. Dufour ◽

J. Davignon

Keyword(s):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

French Canadian ◽

Ldlr Gene ◽

Large Deletions ◽

Canadian Population ◽

Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)84746-4 ◽

1989 ◽

Vol 264 (28) ◽

pp. 16584-16590

Author(s):

Y Miyake ◽

S Tajima ◽

T Funahashi ◽

A Yamamoto

Keyword(s):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Long-term reversal of hypercholesterolemia in low density lipoprotein receptor (LDLR)-deficient mice by adenovirus-mediated LDLR gene transfer combined with CD154 blockade

The Journal of Gene Medicine ◽

10.1002/(sici)1521-2254(200001/02)2:1<41::aid-jgm79>3.0.co;2-p ◽

2000 ◽

Vol 2 (1) ◽

pp. 41-51 ◽

Cited By ~ 11

Author(s):

Colleen S. Stein ◽

In�s Martins ◽

Beverly L. Davidson

Keyword(s):

Gene Transfer ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

Density Lipoprotein Receptor ◽

Deficient Mice

Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor)

Arteriosclerosis Thrombosis and Vascular Biology ◽

10.1161/atvbaha.117.310217 ◽

2018 ◽

Vol 38 (3) ◽

pp. 592-598 ◽

Cited By ~ 32

Author(s):

Aurélie Thedrez ◽

Dirk J. Blom ◽

Stéphane Ramin-Mangata ◽

Valentin Blanchard ◽

Mikaël Croyal ◽

...

Keyword(s):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

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

Systematic prediction of familial hypercholesterolemia caused by low-density lipoprotein receptor missense mutations

Atherosclerosis ◽

10.1016/j.atherosclerosis.2018.12.003 ◽

2019 ◽

Vol 281 ◽

pp. 1-8 ◽

Cited By ~ 3

Author(s):

Jiayan Guo ◽

Yan Gao ◽

Xun Li ◽

Ying He ◽

Xin Zheng ◽

...

Keyword(s):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Missense Mutations ◽