Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis

Hereditaryelliptocytosis (HE) is a hereditary hemolytic disease, characterized by the presence of many elliptical erythrocytes in the peripheral blood that is caused by abnormal cytoskeletal proteins in the erythrocyte membrane. In the present study, a novel, causal HE mutation was reported. Routine...

Descripción completa

Detalles Bibliográficos
Autores principales: Ma, Shiyue, Qin, Jinqiu, Wei, Aiqiu, Li, Xiaohong, Qin, Yuanyuan, Liao, Lin, Lin, Faquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866036/
https://www.ncbi.nlm.nih.gov/pubmed/29484404
http://dx.doi.org/10.3892/mmr.2018.8632

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866036/
https://www.ncbi.nlm.nih.gov/pubmed/29484404
http://dx.doi.org/10.3892/mmr.2018.8632

Ejemplares similares