4. Identification of a novel nonsense variant C.1332DUP, P. (D445*) in the LDLR gene that causes familial hypercholesterolemia

4. Identification of a novel nonsense variant C.1332DUP, P. (D445*) in the LDLR gene that causes familial hypercholesterolemia

Basic Science Research. Presentation type: Digital Poster. Introduction: Familial hypercholesterolemia (FH) is an autosomal dominant disease predominantly caused by a mutation in the low-density lipoprotein receptor (LDLR) gene. Here, we describe two severely affected FH patients from the same Saudi...

Full description

Bibliographic Details
Main Authors: Faisal Al-Allaf, Mohammad Athar, Zainularifeen Abduljaleel, Abdellatif Bouazzaoui, Taher Mohiuddin, Rakan Own, Ahmad Al-Allaf, Iman Abumansour, Zohor Azhar, Faisal Ba-Hammam, Halah Abalkhail, Abdullah Alashwal
Format: Article
Language:English
Published: Saudi Heart Association 2017-10-01
Series:Journal of the Saudi Heart Association
Online Access:http://www.sciencedirect.com/science/article/pii/S101673151730091X

Internet

http://www.sciencedirect.com/science/article/pii/S101673151730091X

Similar Items