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A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major

We describe the identification of a novel missense mutation in the second zinc finger of KLF1 in two siblings who, based on their genotype, are predicted to suffer from beta thalassemia major but are, in fact, transfusion‐free and in good health. These individuals, as well as two additional members...

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書目詳細資料
發表在:Hum Mutat
Main Authors: Fanis, Pavlos, Kousiappa, Ioanna, Phylactides, Marios, Kyrri, Andreani, Hadjigavriel, Michael, Christou, Soteroula, Sitarou, Maria, Kleanthous, Marina
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2019
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6790707/
https://ncbi.nlm.nih.gov/pubmed/31115947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23817
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