Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient

Congenital dyserythropoietic anemia type IV is caused by a heterozygous mutation, Glu325Lys (E325K), in the KLF1 transcription factor. Molecular characteristics of this disease have not been clarified, partly due to its rarity. We expanded erythroid cells from a patient’s peripheral blood and analyz...

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Detalles Bibliográficos
Autores principales: Varricchio, Lilian, Planutis, Antanas, Manwani, Deepa, Jaffray, Julie, Mitchell, W. Beau, Migliaccio, Anna Rita, Bieker, James J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959163/
https://www.ncbi.nlm.nih.gov/pubmed/30872368
http://dx.doi.org/10.3324/haematol.2018.209858

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959163/
https://www.ncbi.nlm.nih.gov/pubmed/30872368
http://dx.doi.org/10.3324/haematol.2018.209858

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