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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Bibliographic Details
Published in:Mol Med Rep
Main Authors: Ma, Shiyue, Qin, Jinqiu, Wei, Aiqiu, Li, Xiaohong, Qin, Yuanyuan, Liao, Lin, Lin, Faquan
Format: Artigo
Language:Inglês
Published: D.A. Spandidos 2018
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5866036/
https://ncbi.nlm.nih.gov/pubmed/29484404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2018.8632
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