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Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families
Authors:Qianqian Pang  Xuan Qi  Yan Jiang  Ou Wang  Mei Li  Xiaoping Xing  Jin Dong  Weibo Xia
Institution:1. Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China
2. Department of Endocrinology, The First affiliated Hospital of Shanxi Medical University, Taiyuan, 030001, China
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