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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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Vydáno v:J Cell Mol Med
Hlavní autoři: Hao, Lili, Li, Shanshan, Ma, Duan, Chen, Shiyu, Zhang, Bowen, Xiao, Deyong, Zhang, Jin, Jiang, Nan, Jiang, Shayi, Ma, Jing
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
Témata:
On-line přístup: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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