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

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 (FH). Howe...

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Detalles Bibliográficos
Autores principales: Hori, Mika, Takahashi, Atsushi, Son, Cheol, Ogura, Masatsune, Harada-Shiba, Mariko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137240/
https://www.ncbi.nlm.nih.gov/pubmed/32252761
http://dx.doi.org/10.1186/s12944-020-01252-4

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