A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major-Reference-Cited by-同舟云学术

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

Published:2019-06-24 Issue:10 Volume:40 Page:1768-1780
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Fanis Pavlos¹^ORCID,Kousiappa Ioanna¹^ORCID,Phylactides Marios¹^ORCID,Kyrri Andreani²,Hadjigavriel Michael³,Christou Soteroula⁴,Sitarou Maria⁵,Kleanthous Marina¹^ORCID

Affiliation:

1. Molecular Genetics Thalassaemia DepartmentThe Cyprus Institute of Neurology and Genetics Nicosia Cyprus

2. Population Screening LaboratoryArchbishop Makarios III Hospital Nicosia Cyprus

3. Thalassaemia ClinicLimassol General Hospital Limassol Cyprus

4. Thalassaemia ClinicArchbishop Makarios III Hospital Nicosia Cyprus

5. Thalassaemia ClinicLarnaca General Hospital Larnaca Cyprus

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23817

Reference37 articles.

1. A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

2. PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations

3. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

4. Erythroid phenotypes associated with KLF1 mutations

5. Therapeutic Hemoglobin Levels after Gene Transfer in β-Thalassemia Mice and in Hematopoietic Cells of β-Thalassemia and Sickle Cells Disease Patients

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