A de novo ANK1 mutation associated to hereditary spherocytosis: a case report

Abstract Background Hereditary spherocytosis (HS) is a type of hemolytic anemia caused by abnormal red cell membrane skeletal proteins with few unique clinical manifestations in the neonate and infant. An ANK1 gene mutation is the most common cause of HS. Case presentation The patient was a 11-month...

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發表在:	BMC Pediatrics
Main Authors:	Ti-Long Huang, Bao-Hua Sang, Qing-Ling Lei, Chun-Yan Song, Yun-Bi Lin, Yu Lv, Chun-Hui Yang, Na Li, Yue-Huang Yang, Xian-Wen Zhang, Xin Tian
格式:	Article
語言:	英语
出版:	BMC 2019-02-01
主題:	Hereditary spherocytosis- ANK1- frameshift mutation
在線閱讀:	http://link.springer.com/article/10.1186/s12887-019-1436-4