Identification of a novel nonsense variant c.1332dup,...

Human Genome Variation 2014 / 11 Vol. 1

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

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, Abalkha
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Volume:
1
Language:
english
Journal:
Human Genome Variation
DOI:
10.1038/hgv.2014.21
Date:
November, 2014
File:
PDF, 450 KB
english, 2014
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