A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene

We present the first case of a Japanese patient with familial hypobetalipoproteinemia (FHBL) caused by a protein-truncating variant in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene. A 34-year-old woman was referred to our hospital due to her low low-density lipoprotein (LDL)-cholest...

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Detalles Bibliográficos
Publicado en:Intern Med
Main Authors: Tada, Hayato, Okada, Hirofumi, Nomura, Akihiro, Nohara, Atsushi, Takamura, Masayuki, Kawashiri, Masa-aki
Formato: Artigo
Idioma:Inglês
Publicado: The Japanese Society of Internal Medicine 2020
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7118388/
https://ncbi.nlm.nih.gov/pubmed/32173689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.3737-19
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