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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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| Pubblicato in: | Blood |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society of Hematology
2015
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| Soggetti: | |
| Accesso online: | 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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