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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Detalles Bibliográficos
Autores principales: Shaik, Noor Ahmad, Al-Shehri, Najla, Athar, Mohammad, Awan, Ahmed, Khalili, Mariam, Al Mahadi, Hadiah Bassam, Hejazy, Gehan, Saadah, Omar I., Al-Harthi, Sameer Eida, Elango, Ramu, Banaganapalli, Babajan, Alefishat, Eman, Awan, Zuhier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353052/
https://www.ncbi.nlm.nih.gov/pubmed/37469559
http://dx.doi.org/10.3389/fphys.2023.1204018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353052/
https://www.ncbi.nlm.nih.gov/pubmed/37469559
http://dx.doi.org/10.3389/fphys.2023.1204018

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