Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

We analyzed the DNA sequence of the cDNA encoding the NH2 terminal region of beta spectrin from members of a kindred with autosomal dominant hereditary spherocytosis associated with defective protein 4.1 binding. We found a point mutation at codon 202 within the 272 amino acid NH2-terminal region of...

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Publié dans:	J Clin Invest
Auteurs principaux:	Becker, P S, Tse, W T, Lux, S E, Forget, B G
Format:	Artigo
Langue:	Inglês
Publié:	American Society for Clinical Investigation 1993
Sujets:	Research Article
Accès en ligne:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC294892/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8102379/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116628
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