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