Characterization of two low density lipoprotein receptor (LDLR) gene mutations in Tunisian familial hypercholesterolemia

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

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 ◽

Original research Characterization of low density lipoprotein receptor (LDLR) gene mutations in Albania

Archives of Medical Science ◽

10.5114/aoms.2010.13894 ◽

2010 ◽

Vol 2 ◽

pp. 198-200 ◽

Cited By ~ 2

Author(s):

Maria Diakou ◽

George Miltiadous ◽

Stavroula Xenophontos ◽

Marios Cariolou ◽

Nevila Heta ◽

...

Keyword(s):

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Original Research ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

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 ◽

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 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 ◽

Heterozygous Familial Hypercholesterolemia ◽

Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece

Human Mutation ◽

10.1002/humu.1121 ◽

2001 ◽

Vol 17 (5) ◽

pp. 432-433 ◽

Cited By ~ 15

Author(s):

George Miltiadous ◽

Moses Elisaf ◽

Helen Bairaktari ◽

Stavroulla L. Xenophontos ◽

Panayiotis Manoli ◽

...

Keyword(s):

Geographic Distribution ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

Density Lipoprotein Receptor ◽

Northwestern Greece

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 ◽

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 ◽