期刊论文详细信息
Journal of Cellular and Molecular Medicine
Two closely spaced missense COL3A1 variants in cis cause vascular Ehlers‐Danlos syndrome in one large Chinese family
Yan Dai1  Yunbing Chang2  Chong Chen2  Yushun Gao3  Mei Liang3 
[1] Department of Radiology, First Affiliated Hospital, Sun Yat‐Sen University, Guangzhou, China;Department of Spine Surgery, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China;Department of Thoracic Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China;
关键词: aneurysm;    COL3A1;    Ehlers‐Danlos syndrome vascular type;    missense variant;   
DOI  :  10.1111/jcmm.17063
来源: Wiley
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