Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report

BACKGROUND: Hereditary spherocytosis (HS) is a common inherited red blood cell membrane disorder characterized by an abnormal increase of spherocytes in peripheral blood. SPTB gene mutation is one of the most common causes of HS; however, few cases of HS resulting from SPTB mutation in the Chinese p...

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Detalles Bibliográficos
Autores principales: Du, Zhanhui, Luo, Gang, Wang, Kuiliang, Bing, Zhen, Pan, Silin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8237424/
https://www.ncbi.nlm.nih.gov/pubmed/34182956
http://dx.doi.org/10.1186/s12887-021-02771-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8237424/
https://www.ncbi.nlm.nih.gov/pubmed/34182956
http://dx.doi.org/10.1186/s12887-021-02771-4

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