Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.

alpha I/74 hereditary elliptocytosis (HE) is a subgroup of HE in which patients exhibit an impaired self-association of spectrin dimers and an abnormal proteolytic cleavage of the alpha I domain of spectrin. We studied a family in which the proband presented with a severe neonatal hemolytic anemia w...

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Vydáno v:	J Clin Invest
Hlavní autoři:	Tse, W T, Lecomte, M C, Costa, F F, Garbarz, M, Feo, C, Boivin, P, Dhermy, D, Forget, B G
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	American Society for Clinical Investigation 1990
Témata:	Research Article
On-line přístup:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296810/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1975598/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114792
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