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Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.

We studied a 43 yr-old Spanish patient with homozygous 4.1(-) hereditary elliptocytosis. Any form of protein 4.1 was missing in the red cells. Spectrin and actin were slightly, yet significantly, diminished. Alterations appeared at the level of proteins 4.5 and 4.9. Glycophorin C was sharply reduced...

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Dettagli Bibliografici
Pubblicato in:J Clin Invest
Autori principali: Dalla Venezia, N, Gilsanz, F, Alloisio, N, Ducluzeau, M T, Benz, E J, Delaunay, J
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 1992
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC443228/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1430200/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116044
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