Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children-Reference-Cited by-同舟云学术

Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children

Published:2016-01 Issue:1 Volume:107 Page:24-32
ISSN:0888-7543
Container-title:Genomics
language:en
Short-container-title:Genomics

Author:

Al-Allaf Faisal A.,Alashwal Abdullah,Abduljaleel Zainularifeen,Taher Mohiuddin M.,Siddiqui Shahid S.,Bouazzaoui Abdellatif,Abalkhail Hala,Aun Rakan,Al-Allaf Ahmad F.,AbuMansour Iman,Azhar Zohor,Ba-Hammam Faisal A.,Khan Wajahatullah,Athar Mohammad

Funder

Science and Technology Unit

National Science, Technology and Innovation Plan (NSTIP)

Kingdom of Saudi Arabia

Publisher

Elsevier BV

Subject

Genetics

Reference47 articles.

1. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia;Abifadel;Nat. Genet.,2003

2. Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia;Al-Allaf;Hum. Genome Var.,2014

3. Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease;Al-Allaf;Gene,2015