Two novel ANK1 loss‐of‐function mutations in Chinese families with hereditary spherocytosis

Hereditary spherocytosis (HS) is the most common inherited haemolytic anaemia disorder. ANK1 mutations account for most HS cases, but pathogenicity analysis and functional research have not been widely performed for these mutations. In this study, in order to confirm diagnosis, gene mutation was scr...

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Bibliografiske detaljer
Udgivet i:J Cell Mol Med
Main Authors: Hao, Lili, Li, Shanshan, Ma, Duan, Chen, Shiyu, Zhang, Bowen, Xiao, Deyong, Zhang, Jin, Jiang, Nan, Jiang, Shayi, Ma, Jing
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6533472/
https://ncbi.nlm.nih.gov/pubmed/31016877
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jcmm.14343
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