Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5

SPG5 is a rare subtype of autosomal recessive hereditary spastic paraplegia caused by a homozygous mutation in the oxysterol 7α-hydroxylase gene, CYP7B1. We describe the first Japanese patient with SPG5 with a novel mutation in the CYP7B1 gene. On exome sequencing, we identified a homozygous framesh...

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Detalles Bibliográficos
Autores principales: Nan, Haitian, Shimozono, Keisuke, Ichinose, Yuta, Tsuchiya, Mai, Koh, Kishin, Hiraide, Masaki, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443544/
https://www.ncbi.nlm.nih.gov/pubmed/30333426
http://dx.doi.org/10.2169/internalmedicine.1839-18

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