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Article

Identification and functional characterization of two rare LDLR stop gain variants (p.C231* and p.R744*) in Saudi familial hypercholesterolemia patients.

Panminerva medica - 1 Dec 2023

Awan Zuhier, Batran Alhanuf, Al-Allaf Faisal A, Alharbi Raneem S, Hegazy Gehan A, Jamalalail Bassam, Almansouri Majid, Bima Abdulhadi I, Almukadi Haifa, Kutbi Hussam I, Altayar Ahmed E, Banaganapalli Babajan, Shaik Noor A

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is a globally underdiagnosed inherited metabolic disorder. Owing to limited published data from Arab world, this study was conducted with the aim of identifying the genetic and molecular basis of FH in highly consanguineous Saudi population. METHODS: We performed clinical screening, biochemical profiling, whole exome sequencing and variant segregation analysis of two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35274909
DOI: 10.23736/S0031-0808.22.04612-2

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