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

by 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
Published 2017-10-01

1. Founder mutation identified in the LDLR gene causing familial hypercholesterolemia associated with increased risk of coronary heart disease

by Faisal Al-Allaf, Mohammad Athar, Abdullah Alashwal, Zainularifeen Abduljaleel, Taher Mohiuddin, Abdellatif Bouazzaoui, Halah Abalkhail, Rakan Own, Ahmad Al-Allaf, Iman Abumansour, Zohor Azhar, Fahad Alnouri, Mawaddah Toonsi
Published 2017-10-01