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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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Hum Mutat
Päätekijät: Fanis, Pavlos, Kousiappa, Ioanna, Phylactides, Marios, Kyrri, Andreani, Hadjigavriel, Michael, Christou, Soteroula, Sitarou, Maria, Kleanthous, Marina
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2019
Aiheet:
Linkit: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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