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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Veröffentlicht in:J Clin Invest
Hauptverfasser: Marchesi, S L, Conboy, J, Agre, P, Letsinger, J T, Marchesi, V T, Speicher, D W, Mohandas, N
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 1990
Schlagworte:
Research Article
Online Zugang: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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