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Whole exome sequencing and functional validation identify CAPN1 variants as a cause of Chinese moyamoya disease
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作者 Yue Wang Zhengxing Zou +7 位作者 Zhibin Yang Zhengshan Zhang Jun Xu fangbin hao Juan Shen Cong Han Wanyang Liu Lian Duan 《Genes & Diseases》 SCIE CSCD 2024年第4期35-38,共4页
Moyamoyadisease(MMD,MIM607151)is a rarevascular condition that has high recurrence,mortality,and disability rates,and an effective treatment for this disease is currently lacking.The main symptoms of affected children... Moyamoyadisease(MMD,MIM607151)is a rarevascular condition that has high recurrence,mortality,and disability rates,and an effective treatment for this disease is currently lacking.The main symptoms of affected children and adults include ischemic and hemorrhagic strokes,with an age of onset that follows a bimodal distribution trend at approximately 5 and 40 years of age. 展开更多
关键词 MORTALITY WHOLE MODAL
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