Cerebral Small Vessel Disease Related to a Heterozygous Nonsense Mutation in HTRA1

Homozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, a very rare hereditary cerebral small-vessel disease (SVD). Recently, the relationship...

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Detalles Bibliográficos
Autores principales: Ohta, Kentaro, Ozawa, Tetsuo, Fujinaka, Hidehiko, Goto, Kiyoe, Nakajima, Takashi
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/PMC7303461/
https://www.ncbi.nlm.nih.gov/pubmed/32101834
http://dx.doi.org/10.2169/internalmedicine.4041-19

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