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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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Gardado en:
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Physiology
Assuntos:
familial hypercholesterolemia
cardiovascular diseases
whole exome sequence
sanger sequence
pcsk9
Acceso en liña:https://www.frontiersin.org/articles/10.3389/fphys.2023.1204018/full
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