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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:
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