Article
Low-density lipoprotein receptor gene mutation analysis and structure-function correlation in an Omani arab family with familial hypercholesterolemia.
Angiology - 1 Nov 2014
Al-Rasadi Khalid, Al-Waili Khalid, Al-Zidi Ward Al-Muna, Al-Abri Abdul Rahim, Al-Hinai Ali T, Al-Sabti Hilal Ali, Al-Tobi Sheikha, Al-Zakwani Ibrahim, Al-Zadjali Fahad, Al-Hashmi Khamis, Banerjee Yajnavalka
Abstract excerpt
Familial hypercholesterolemia (FH) is an autosomal dominant disorder typified by elevated low-density lipoprotein cholesterol (LDL-C) levels caused by mutations in the LDL receptor (LDLR), apolipoprotein B (ApoB), or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Previously, we reported a novel mutation in the exon-3 of LDLR gene, observed in a 9-year-old Omani Arab female. Here, we investigated the...
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