Zohor Azhar

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

M. Athar, F. Al-Allaf, M. Taher, 2016, Genomics.

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

M. Athar, F. Al-Allaf, M. Taher, 2014, Human Genome Variation.

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

M. Athar, F. Al-Allaf, F. Alnouri, 2017 .