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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hao, Lili, Li, Shanshan, Ma, Duan, Chen, Shiyu, Zhang, Bowen, Xiao, Deyong, Zhang, Jin, Jiang, Nan, Jiang, Shayi, Ma, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533472/
https://www.ncbi.nlm.nih.gov/pubmed/31016877
http://dx.doi.org/10.1111/jcmm.14343

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533472/
https://www.ncbi.nlm.nih.gov/pubmed/31016877
http://dx.doi.org/10.1111/jcmm.14343

Ejemplares similares