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Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report

The present study describes the clinical profile and ankyrin 1 (ANK1) mutation status of a Chinese family with hereditary spherocytosis (HS). A young male patient (proband) was diagnosed with HS after presenting with anaemia and jaundice. The Coombs test was negative and spherocytes were found in pe...

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Detalles Bibliográficos
Autores principales: Zhu, Xiaoning, Peng, Mengyun, Yin, Yue, Zhang, Yurong, Zheng, Ding, Peng, Zhaoxuan, Cheng, Jun, Yang, Song, Wang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748711/
https://www.ncbi.nlm.nih.gov/pubmed/36561627
http://dx.doi.org/10.3892/etm.2022.11704