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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 FA, Alashwal A, Abduljaleel Z, Taher MM, Siddiqui SS, Bouazzaoui A, Abalkhail H, Aun R, Al-Allaf AF, AbuMansour I, Azhar Z, Ba-Hammam FA, Khan W, Athar M. Al-Allaf FA, et al. Among authors: al allaf af. Genomics. 2016 Jan;107(1):24-32. doi: 10.1016/j.ygeno.2015.12.001. Epub 2015 Dec 11. Genomics. 2016. PMID: 26688439 Free article.