The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia

The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia

Abstract Background We previously identified the c.344G > A: p.(Arg115His) variant in the low-density lipoprotein receptor (LDLR) gene, which was interpreted as “conflicting interpretations of pathogenicity” in ClinVar, based on a genetic analysis of patients with familial hypercholesterolemia (F...

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Bibliographic Details
Main Authors: Mika Hori, Atsushi Takahashi, Cheol Son, Masatsune Ogura, Mariko Harada-Shiba
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Lipids in Health and Disease
Subjects:
LDL receptor
Familial hypercholesterolemia
Variant
Benign
Annotation
Online Access:http://link.springer.com/article/10.1186/s12944-020-01252-4

Internet

http://link.springer.com/article/10.1186/s12944-020-01252-4

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