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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Publicat a:	J Clin Invest
Autors principals:	Dalla Venezia, N, Gilsanz, F, Alloisio, N, Ducluzeau, M T, Benz, E J, Delaunay, J
Format:	Artigo
Idioma:	Inglês
Publicat:	American Society for Clinical Investigation 1992
Matèries:	Research Article
Accés en línia:	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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