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Article

Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site.

Blood - 15 Jun 2008

Gaetani Massimiliano, Mootien Sara, Harper Sandra, Gallagher Patrick G, Speicher David W

Abstract excerpt

The most common hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) mutations are alpha-spectrin missense mutations in the dimer-tetramer self-association site. In this study, we systematically compared structural and functional properties of the 14 known HE/HPP mutations located in the alpha-spectrin tetramer binding site. All mutant alpha-spectrin recombinant peptides were well folded, stable...

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Share to Anemia, Hemolytic, Congenital
Share to Calorimetry, Differential Scanning

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Circular Dichroism

Share to Entropy

Share to Erythrocytes

Share to Spectrin

Share to Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Share to Structure-Activity Relationship

Source

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Identifiers

PMID: 18218854
DOI: 10.1182/blood-2007-11-122457
PMCID: PMC2424163

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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