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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Shranjeno v:
Bibliografske podrobnosti
izdano v: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.
Format: Artigo
Jezik:Inglês
Izdano: 2016
Teme:
Article
Online dostop: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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