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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 |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
The Japanese Society of Internal Medicine
2020
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| Soggetti: | |
| 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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