First Case Report of Familial Hypercholesterolemia in an Omani Family Due to Novel Mutation in the Low-Density Lipoprotein Receptor Gene

Angiology ◽

10.1177/0003319712465171 ◽

2012 ◽

Vol 64 (4) ◽

pp. 287-292 ◽

Author(s):

Ali T. Al-Hinai ◽

Abdulrahim Al-Abri ◽

Humoud Al-Dhuhli ◽

Khalid Al-Waili ◽

Hilal Al-Sabti ◽

...

Keyword(s):

Case Report ◽

Familial Hypercholesterolemia ◽

Novel Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

Familial Hypercholesterolemia in an Azorean Family: A Novel Mutation in the Low-Density Lipoprotein Receptor Gene

Advances in Bioscience and Biotechnology ◽

10.4236/abb.2014.58081 ◽

2014 ◽

Vol 05 (08) ◽

pp. 685-691

Author(s):

Rita Lourenço ◽

Luísa Martins ◽

João Anselmo ◽

Marina Rita Soares ◽

Ana Medeiros ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Novel Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

FH-Pyrgos: a novel mutation in the promoter (−45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia

Clinical Genetics ◽

10.1034/j.1399-0004.2003.00164.x ◽

2003 ◽

Vol 64 (5) ◽

pp. 414-419 ◽

Author(s):

GVZ Dedoussis ◽

C Pitsavos ◽

D Kelberman ◽

J Skoumas ◽

ME Prassa ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Novel Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

GW24-e3589 A novel mutation 1587_1588 del2 of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia in a Chinese family

Heart ◽

10.1136/heartjnl-2013-304613.414 ◽

2013 ◽

Vol 99 (Suppl 3) ◽

pp. A150.1-A150

Author(s):

Shi Yuping ◽

Xin Xu ◽

Lihan Wang ◽

Geng Xu ◽

Jiang Shan ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Novel Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Chinese Family ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

A novel mutation in Exon 4 of the low density lipoprotein receptor gene resulting in heterozygous familial hypercholesterolemia associated with decreased ligand binding

Atherosclerosis ◽

10.1016/s0021-9150(97)00174-3 ◽

1998 ◽

Vol 136 (1) ◽

pp. 9-16

Author(s):

Barbara A. Morash ◽

Meng-Hee Tan ◽

Bassam A. Nassar ◽

Catherine K.L. Too ◽

Duane L. Guernsey

Keyword(s):

Ligand Binding ◽

Familial Hypercholesterolemia ◽

Novel Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Download Full-text

A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia

Clinical Genetics ◽

10.1111/j.1399-0004.1997.tb02505.x ◽

2008 ◽

Vol 51 (6) ◽

pp. 430-431 ◽

Author(s):

P. Lombardi ◽

J.C. Defesche ◽

S.W.A. Kamerling ◽

J.J.P. Kastelein ◽

L.M. Havekes

Keyword(s):

Familial Hypercholesterolemia ◽

Novel Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Download Full-text

A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation

Human Mutation ◽

10.1002/(sici)1098-1004(1997)9:3<274::aid-humu10>3.0.co;2-# ◽

1997 ◽

Vol 9 (3) ◽

pp. 274-276 ◽

Author(s):

Nicholas Mavroidis ◽

Joanne Traeger-Synodinos ◽

Emmanuel Kanavakis ◽

Eurydiki Drogari ◽

Nicholas Matsaniotis ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Novel Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

High Incidence ◽

Density Lipoprotein Receptor

Download Full-text

A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia

Clinical Genetics ◽

10.1034/j.1399-0004.2001.590414.x ◽

2001 ◽

Vol 59 (4) ◽

pp. 290-292 ◽

Author(s):

M Takahashi ◽

U Ikeda ◽

S Takahashi ◽

H Hattori ◽

T Iwasaki ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Novel Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Exon 2 ◽

Density Lipoprotein Receptor

Download Full-text

High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium

Clinical Genetics ◽

10.1111/j.1399-0004.1997.tb02478.x ◽

2008 ◽

Vol 51 (5) ◽

pp. 303-308 ◽

Author(s):

O. Descamps ◽

J-C. Hondekijn ◽

P. Van Acker ◽

J-P. Deslypere ◽

F. R. Heller

Keyword(s):

Familial Hypercholesterolemia ◽

Novel Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

High Prevalence ◽

Density Lipoprotein Receptor ◽

Download Full-text

Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians

Human Molecular Genetics ◽

10.1093/hmg/3.9.1689 ◽

1994 ◽

Vol 3 (9) ◽

pp. 1689-1691 ◽

Author(s):

Jacques Simard ◽

Sital Moorjani ◽

Marie-Claude Vohl ◽

Patrick Couture ◽

Ana L. Torres ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Novel Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

French Canadians ◽

Density Lipoprotein Receptor ◽

Download Full-text

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

Clinical Genetics ◽

10.1034/j.1399-0004.2000.580202.x ◽

2001 ◽

Vol 58 (2) ◽

pp. 98-105 ◽

Author(s):

Kl Khoo ◽

P Van Acker ◽

Jc Defesche ◽

H Tan ◽

L Van De Kerkhof ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Asian Population ◽

Low Density ◽

Lipoprotein Receptor ◽

Southeast Asian Population ◽

Density Lipoprotein Receptor

Download Full-text