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

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-old bo...

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Dades bibliogràfiques
Publicat a:BMC Pediatr
Autors principals: Huang, Ti-Long, Sang, Bao-Hua, Lei, Qing-Ling, Song, Chun-Yan, Lin, Yun-Bi, Lv, Yu, Yang, Chun-Hui, Li, Na, Yang, Yue-Huang, Zhang, Xian-Wen, Tian, Xin
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2019
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6379977/
https://ncbi.nlm.nih.gov/pubmed/30777044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1436-4
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