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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Pubblicato in:	J Clin Invest
Autori principali:	Becker, P S, Tse, W T, Lux, S E, Forget, B G
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1993
Soggetti:	Research Article
Accesso online:	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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