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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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Pubblicato in:Intern Med
Autori principali: Ohta, Kentaro, Ozawa, Tetsuo, Fujinaka, Hidehiko, Goto, Kiyoe, Nakajima, Takashi
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Japanese Society of Internal Medicine 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7303461/
https://ncbi.nlm.nih.gov/pubmed/32101834
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.4041-19
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