A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia: A case report

RATIONALE: Hereditary elliptocytosis is an inherited disorder characterized by the elliptical red blood cells (RBCs) on the peripheral blood smear and related hemolysis, mainly results from a heterozygous mutation in the genes that encode protein 4.1, α-spectrin, β-spectrin. Mutations of SPTA1 are t...

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Detalles Bibliográficos
Autores principales: Xi, Yaming, Wang, Lina, Zhang, Pengpeng, Jia, Mingfeng, Li, Zijian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708995/
https://www.ncbi.nlm.nih.gov/pubmed/31145309
http://dx.doi.org/10.1097/MD.0000000000015800

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708995/
https://www.ncbi.nlm.nih.gov/pubmed/31145309
http://dx.doi.org/10.1097/MD.0000000000015800

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