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Article

Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis.

The Biochemical journal - 15 May 1998

Nicolas G, Pedroni S, Fournier C, Gautero H, Craescu C, Dhermy D, Lecomte M C

Abstract excerpt

Most of hereditary elliptocytosis (HE) cases are related to a spectrin dimer (SpD) self-association defect. The severity of haemolysis is correlated with the extent of the SpD self-association defect, which itself depends on the location of the mutation regarding the tetramerization site. This site is presumed to involve the first C helix of the alpha chain and the last two helices, A and B, of the beta chain to...

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Identifiers

PMID: 9576854
DOI: 10.1042/bj3320081
PMCID: PMC1219454

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Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis.PMID 9576854Read ↗

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