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Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children
Al-Allaf, Faisal A., Alashwal, Abdullah, Abduljaleel, Zainularifeen, Taher, Mohiuddin M., Siddiqui, Shahid S., Bouazzaoui, Abdellatif, Abalkhail, Hala, Aun, Rakan, Al-Allaf, Ahmad F., AbuMansour, ImanLanguage:
english
Journal:
Genomics
DOI:
10.1016/j.ygeno.2015.12.001
Date:
December, 2015
File:
PDF, 1.69 MB
english, 2015