Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis

Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result from mutations in the genes encoding α-spectrin (SPTA1), β-spectrin (SPTB), or protein 4.1R (EPB41). The resulting defects alter the horizontal cytoskeletal as...

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Foilsithe in:Blood Cells Mol Dis
Main Authors: Niss, Omar, Chonat, Satheesh, Dagaonkar, Neha, Almansoori, Marya O., Kerr, Karol, Rogers, Zora R., McGann, Patrick T., Quarmyne, Maa-Ohui, Risinger, Mary, Zhang, Kejian, Kalfa, Theodosia A.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2016
Ábhair:
Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5098801/
https://ncbi.nlm.nih.gov/pubmed/27667160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2016.07.003
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