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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Bibliografiske detaljer
Udgivet i: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
Sprog:Inglês
Udgivet: 2016
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Article
Online adgang: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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