The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation

Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are common disorders of erythrocyte shape primarily because of mutations in spectrin. The most common HE/HPP mutations are located distant from the critical αβ-spectrin tetramerization site, yet still interfere with formation of...

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Bibliografische gegevens
Hoofdauteurs: Harper, Sandra L., Sriswasdi, Sira, Tang, Hsin-Yao, Gaetani, Massimiliano, Gallagher, Patrick G., Speicher, David W.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society of Hematology 2013
Onderwerpen:
Red Cells, Iron, and Erythropoiesis
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3811177/
https://ncbi.nlm.nih.gov/pubmed/23974198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2013-02-487702
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