Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes

BACKGROUND: Hereditary spherocytosis (HS) is a common type of hereditary hemolytic anemia. According to the current diagnostic criteria of HS, patients with a family history of HS, typical clinical features and laboratory investigations could be diagnosed without the requirement of any additional te...

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Detalles Bibliográficos
Autores principales: Shen, Hongwei, Huang, Hui, Luo, Kaizhong, Yi, Yan, Shi, Xiaoliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534931/
https://www.ncbi.nlm.nih.gov/pubmed/31126250
http://dx.doi.org/10.1186/s12881-019-0826-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534931/
https://www.ncbi.nlm.nih.gov/pubmed/31126250
http://dx.doi.org/10.1186/s12881-019-0826-7

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