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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Vydáno v:BMC Pediatr
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Case Report
On-line přístup: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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