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The Q181X Point Mutation in Nf1 Induces Cerebral Vessel Stenosis

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摘要 Dear Editor,Ischemic stroke is characterized by high morbidity and disability,seriously endangering human health.The cause and genetic background of cerebrovascular stenosis,which directly lead to stroke,are not fully understood yet[1].Therefore,it is diffcult to accurately predict the development of stroke and carry out the corresponding prevention and treatment.NF1(neurofibromatosis type 1)is one of the most common autosomal dominant genetic diseases,caused by mutations in the Nfl gene with an incidence rate of~1/3000 and there are no ethnic or sex differences in the incidence[2].More than 8%of NF1 patients will have hypertension,arterial stenosis,aortic aneurysm,or moyamoya disease[3].
出处 《Neuroscience Bulletin》 SCIE CAS CSCD 2023年第5期813-816,共4页 神经科学通报(英文版)
基金 supported by the Beijing Municipal Natural Science Foundation(General Program)(7182065) Xicheng District Excellent Talents Top Team Project of Beijing(201915).
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