Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia

Por Al-Allaf, Faisal A, Athar, Mohammad, Abduljaleel, Zainularifeen, Bouazzaoui, Abdellatif, Taher, Mohiuddin M, Own, Rakan, Al-Allaf, Ahmad F, AbuMansour, Iman, Azhar, Zohor, Ba-hammam, Faisal A, Abalkhail, Hala, Alashwal, Abdullah
Publicado no Hum Genome Var (2014)