Výsledky vyhledávání - "Sameer Eida Al-Harthi"

Akademický článek

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

Autor: 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

Publikováno v: Frontiers in Physiology, Vol 14 (2023)

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

Externí odkaz: https://doaj.org/article/e5c12319f28648118c8996fe07116d20

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Periodical

Researchers at King Abdulaziz University Publish New Study Findings on Personalized Medicine [Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome...].

Publikováno v: Drug Week; 7/21/2023, p2016-2016, 1p

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