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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Argitaratua izan da:	J Clin Invest
Egile Nagusiak:	Dalla Venezia, N, Gilsanz, F, Alloisio, N, Ducluzeau, M T, Benz, E J, Delaunay, J
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	American Society for Clinical Investigation 1992
Gaiak:	Research Article
Sarrera elektronikoa:	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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