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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...

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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

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