Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor

Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor

Abstract Familial hypercholesterolemia (FH) is a genetic disease characterized by elevated LDL-C levels. In this study, two FH probands and 9 family members from two families from northeastern Thailand were tested for LDLR, APOB, and PCSK9 variants by whole-exome sequencing, PCR-HRM, and Sanger sequ...

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Bibliographic Details
Main Authors: Burabha Pussadhamma, Chaiyasith Wongvipaporn, Atthakorn Wutthimanop, Manit Nuinoon, Sureerut Porntadavity, Nutjaree Jeenduang
Format: Article
Language:English
Published: Nature Portfolio 2024-03-01
Series:Scientific Reports
Subjects:
Familial hypercholesterolemia
In silico analysis
LDLR
Novel variant
PCSK9 inhibitor
Online Access:https://doi.org/10.1038/s41598-024-57069-z

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