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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Dades bibliogràfiques
Publicat a:J Cell Mol Med
Autors principals: Hao, Lili, Li, Shanshan, Ma, Duan, Chen, Shiyu, Zhang, Bowen, Xiao, Deyong, Zhang, Jin, Jiang, Nan, Jiang, Shayi, Ma, Jing
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
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Original Articles
Accés en línia: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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