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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.
Shaik NA, Al-Shehri N, Athar M, Awan A, Khalili M, Al Mahadi HB, Hejazy G, Saadah OI, Al-Harthi SE, Elango R, Banaganapalli B, Alefishat E, Awan Z. Shaik NA, et al. Among authors: al harthi se. Front Physiol. 2023 Jul 4;14:1204018. doi: 10.3389/fphys.2023.1204018. eCollection 2023. Front Physiol. 2023. PMID: 37469559 Free PMC article.
Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients.
Al-Aama JY, Shaik NA, Banaganapalli B, Salama MA, Rashidi O, Sahly AN, Mohsen MO, Shawoosh HA, Shalabi HA, Edreesi MA, Alharthi SE, Wang J, Elango R, Saadah OI. Al-Aama JY, et al. PLoS One. 2017 May 15;12(5):e0176664. doi: 10.1371/journal.pone.0176664. eCollection 2017. PLoS One. 2017. PMID: 28505210 Free PMC article.
33 results