Low Density Lipoprotein - Receptor (LDL-R) Gene Mutations among Filipinos with Familial Hypercholesterolemia

Felix Eduardo R. Punzalan; Rody G. Sy; Ronald S. Santos; Eva Maria Cutiongco; Silver Gosiengfiao; Erdie Fadriguilan; Peter George; Andrew Laurie

doi:10.5551/jat.12.276

Low Density Lipoprotein - Receptor (LDL-R) Gene Mutations among Filipinos with Familial Hypercholesterolemia

Journal of Atherosclerosis and Thrombosis ◽

10.5551/jat.12.276 ◽

2005 ◽

Vol 12 (5) ◽

pp. 276-283 ◽

Cited By ~ 18

Author(s):

Felix Eduardo R. Punzalan ◽

Rody G. Sy ◽

Ronald S. Santos ◽

Eva Maria Cutiongco ◽

Silver Gosiengfiao ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

R Gene ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

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):

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

Single step PCR for the identification of low density lipoprotein receptor (LDL-R) gene mutations

Pakistan Journal of Medical Sciences ◽

10.12669/pjms.304.4711 ◽

2014 ◽

Vol 30 (4) ◽

Author(s):

Samia Perwaiz Khan

Keyword(s):

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Single Step ◽

Low Density ◽

Lipoprotein Receptor ◽

R Gene ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

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):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

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):

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

Low-density lipoprotein receptor gene mutations diagnose familial hypercholesterolemia

Nature Reviews Cardiology ◽

10.1038/ncpcardio1428 ◽

2009 ◽

Vol 6 (3) ◽

pp. 161-162

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

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):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

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):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

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):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

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):

Familial Hypercholesterolemia ◽

Young Woman ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Proprotein Convertase ◽

Density Lipoprotein Receptor

Download Full-text

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):

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text