Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. I. Biochemical identification of rearrangements in the spectrin/actin binding domain and functional characterizations.

Protein 4.1 (80 kD) interacts with spectrin and short actin filaments to form the erythrocyte membrane skeleton. Mutations of spectrin and protein 4.1 are associated with elliptocytosis or spherocytosis and anemia of varying severity. We analyzed two mutant protein 4.1 molecules associated with elli...

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Pubblicato in:	J Clin Invest
Autori principali:	Marchesi, S L, Conboy, J, Agre, P, Letsinger, J T, Marchesi, V T, Speicher, D W, Mohandas, N
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1990
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296754/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2384597/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114738
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