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...

詳細記述

保存先:
書誌詳細
出版年:Blood Cells Mol Dis
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: 2016
主題:
Article
オンライン･アクセス: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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