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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Bibliografski detalji
Izdano u:Blood Cells Mol Dis
Glavni autori: 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
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Article
Online pristup: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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