نتایج جستجو برای: b100

تعداد نتایج: 597  

Journal: :International Journal of Marine Engineering Innovation and Research 2020

Journal: :Acta Facultatis Medicae Naissensis 2022

Introduction: FH is an autosomal dominant disease of lipid metabolism. Hypercholesterolemia, xanthomas, and death from early coronary artery (CAD) are common in this due to a mutation the LDLR, Apo-B100 or PCSK9 genes. Case report: A 4-year-old male patient with very rare heterozygous c.1730G > C (p.Trp577Ser) variation exon 12 low-density lipoprotein receptor (LDLR) gene that causes familia...

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