Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis

Familial hypercholesterolemia (FH) is a globally underdiagnosed genetic condition associated with premature cardiovascular death. The genetic etiology data on Arab FH patients is scarce. Therefore, this study aimed to identify the genetic basis of FH in a Saudi family using whole exome sequencing (W...

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Bibliographic Details

Published in:	Frontiers in Physiology
Main Authors:	Noor Ahmad Shaik, Najla Al-Shehri, Mohammad Athar, Ahmed Awan, Mariam Khalili, Hadiah Bassam Al Mahadi, Gehan Hejazy, Omar I. Saadah, Sameer Eida Al-Harthi, Ramu Elango, Babajan Banaganapalli, Eman Alefishat, Zuhier Awan
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-07-01
Subjects:	familial hypercholesterolemia cardiovascular diseases whole exome sequence sanger sequence pcsk9
Online Access:	https://www.frontiersin.org/articles/10.3389/fphys.2023.1204018/full