Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C‐terminal truncation syndrome: Case report and literature review
Corresponding Author
Department of Clinical Laboratory, Children's Hospital of Wujiang District, Suzhou, Suzhou, Jiangsu, P.R. China
Department of Clinical Laboratory, Children’s Hospital of Soochow University, Suzhou, Jiangsu, P.R. China
Correspondence
Qin Gu, Department of Rehabilitation Medicine, Children's Hospital of Soochow University, 92 Zhongnan Street, Suzhou Industrial Park, Suzhou 215025, Jiangsu, P.R. China.
Email: guqin_1972@163.com
Hongying Wang, Department of Clinical Laboratory, Children's Hospital of Wujiang District, Suzhou, 169 Park Road, Wujiang District, Suzhou 215234, Jiangsu, P.R. China.
Email: why923811@sina.com
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