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...

Descripción completa

Detalles Bibliográficos
Autores principales: Tada, Hayato, Okada, Hirofumi, Nomura, Akihiro, Nohara, Atsushi, Takamura, Masayuki, Kawashiri, Masa-aki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118388/
https://www.ncbi.nlm.nih.gov/pubmed/32173689
http://dx.doi.org/10.2169/internalmedicine.3737-19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118388/
https://www.ncbi.nlm.nih.gov/pubmed/32173689
http://dx.doi.org/10.2169/internalmedicine.3737-19

Ejemplares similares