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

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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Détails bibliographiques
Auteurs principaux: 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
Format: Article
Langue:English
Publié: BMC 2019-02-01
Collection:BMC Pediatrics
Sujets:
Hereditary spherocytosis- ANK1- frameshift mutation
Accès en ligne:http://link.springer.com/article/10.1186/s12887-019-1436-4

Internet

http://link.springer.com/article/10.1186/s12887-019-1436-4

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