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A Rare Missense Mutation and a Polymorphism with High Frequency in LDLR Gene among Iranian Patients with Familial Hypercholesterolemia

BACKGROUND: Familial hypercholesterolemia (FH) is a disorder that is inherited by autosomal dominant pattern. The main cause of FH disease is the occurrence of mutations in low-density lipoprotein receptor (LDLR) gene sequence, as well as apolipoprotein B and proprotein convertase subtilisin/kexin t...

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Detalles Bibliográficos
Autores principales:	Tajamolian, Masoud, Kolahdouz, Parisa, Nikpour, Parvaneh, Forouzannia, Seyed Khalil, Sheikhha, Mohammad Hasan, Yazd, Ehsan Farashahi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2018
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841003/ https://www.ncbi.nlm.nih.gov/pubmed/29531935 http://dx.doi.org/10.4103/2277-9175.225927

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