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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Bibliografiske detaljer
Udgivet i:	Front Med (Lausanne)
Main Authors:	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.
Format:	Artigo
Sprog:	Inglês
Udgivet:	Frontiers Media S.A. 2021
Fag:	Medicine
Online adgang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC8267156/ https://ncbi.nlm.nih.gov/pubmed/34249980 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fmed.2021.694668
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Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen

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