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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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Détails bibliographiques
Publié dans:Front Med (Lausanne)
Auteurs principaux: 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
Langue:Inglês
Publié: Frontiers Media S.A. 2021
Sujets:
Accès en ligne: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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