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KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome

We describe a case of severe neonatal anemia with kernicterus caused by compound heterozygosity for null mutations in KLF1, each inherited from asymptomatic parents. One of the mutations is novel. This is the first described case of a KLF1-null human. The phenotype of severe nonspherocytic hemolytic...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Magor, Graham W., Tallack, Michael R., Gillinder, Kevin R., Bell, Charles C., McCallum, Naomi, Williams, Bronwyn, Perkins, Andrew C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4521397/
https://ncbi.nlm.nih.gov/pubmed/25724378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-08-590968
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