Loss of GATA-1 Full Length as a Cause of Diamond–Blackfan Anemia Phenotype

Mutations in the hematopoietic transcription factor GATA-1 alter the proliferation/differentiation of hemopoietic progenitors. Mutations in exon 2 interfere with the synthesis of the full-length isoform of GATA-1 and lead to the production of a shortened isoform, GATA-1s. These mutations have been f...

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Detalhes bibliográficos
Publicado no:Pediatr Blood Cancer
Main Authors: Parrella, Sara, Aspesi, Anna, Quarello, Paola, Garelli, Emanuela, Pavesi, Elisa, Carando, Adriana, Nardi, Margherita, Ellis, Steven R., Ramenghi, Ugo, Dianzani, Irma
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4684094/
https://ncbi.nlm.nih.gov/pubmed/24453067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pbc.24944
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