An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells.

Multiple protein 4.1 isoforms are expressed in a variety of tissues through complex alternative pre-mRNA splicing events, one function of which is to regulate use of two alternative translation initiation signals. Late erythroid cells express mainly the downstream initiation site for synthesis of pr...

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Autores principales: Conboy, J G, Chasis, J A, Winardi, R, Tchernia, G, Kan, Y W, Mohandas, N
Formato: Artigo
Lenguaje:Inglês
Publicado: 1993
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC329997/
https://ncbi.nlm.nih.gov/pubmed/8423235
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