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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Detalles Bibliográficos
Autores principales: Fanis, Pavlos, Kousiappa, Ioanna, Phylactides, Marios, Kyrri, Andreani, Hadjigavriel, Michael, Christou, Soteroula, Sitarou, Maria, Kleanthous, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790707/
https://www.ncbi.nlm.nih.gov/pubmed/31115947
http://dx.doi.org/10.1002/humu.23817

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790707/
https://www.ncbi.nlm.nih.gov/pubmed/31115947
http://dx.doi.org/10.1002/humu.23817

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