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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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| 出版年: | Blood |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society of Hematology
2015
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| 主題: | |
| オンライン･アクセス: | 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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