Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis.

Hereditary elliptocytosis (HE) Sp alpha I/74 is a disorder associated with defective spectrin (Sp) heterodimer self-association and an abnormal tryptic cleavage of the 80-kD alpha I domain of Sp resulting in increased amounts of a 74-kD peptide. The molecular basis of this disorder is heterogeneous...

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Main Authors: Coetzer, T L, Sahr, K, Prchal, J, Blacklock, H, Peterson, L, Koler, R, Doyle, J, Manaster, J, Palek, J
Formato: Artigo
Idioma:Inglês
Publicado: 1991
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC295451/
https://ncbi.nlm.nih.gov/pubmed/1679439
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