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Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen

Familial hypercholesterolemia (FH), a well-known lipid disease caused by inherited genetic defects in cholesterol uptake and metabolism is underdiagnosed in many countries including Saudi Arabia. The present study aims to identify the molecular basis of severe clinical manifestations of FH patients...

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Detalles Bibliográficos
Autores principales:	Awan, Zuhier Ahmed, Rashidi, Omran M., Al-Shehri, Bandar Ali, Jamil, Kaiser, Elango, Ramu, Al-Aama, Jumana Y., Hegele, Robert A., Banaganapalli, Babajan, Shaik, Noor A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8267156/ https://www.ncbi.nlm.nih.gov/pubmed/34249980 http://dx.doi.org/10.3389/fmed.2021.694668

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