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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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Acesso em linha: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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