A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.

We studied nine individuals from five unrelated families with alpha I/46-50a hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP), including one of the original HHP probands first reported by Zarkowsky and colleagues (1975. Br. J. Haematol. 29:537-543). Biochemical analysis of eryth...

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Detalhes bibliográficos
Main Authors: Gallagher, P G, Tse, W T, Coetzer, T, Lecomte, M C, Garbarz, M, Zarkowsky, H S, Baruchel, A, Ballas, S K, Dhermy, D, Palek, J
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC442935/
https://ncbi.nlm.nih.gov/pubmed/1541680
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