Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report

Hereditary spherocytosis (HS) is an erythrocyte membrane disease with a non-specific phenotype, particularly occurring in neonatal patients, and its diagnosis is challenging. The present study reports on a patient with neonatal HS and reviewed the genetic characteristics of reported neonatal HS case...

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Detalles Bibliográficos
Autores principales: Xu, Cunxin, Wu, Ya, Wang, Dujuan, Zhang, Xuemin, Wang, Ningling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9353470/
https://www.ncbi.nlm.nih.gov/pubmed/35949318
http://dx.doi.org/10.3892/etm.2022.11537

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9353470/
https://www.ncbi.nlm.nih.gov/pubmed/35949318
http://dx.doi.org/10.3892/etm.2022.11537

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