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Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach

BACKGROUND: B-thalassaemia and sickle cell disease (SCD) are two of the most common monogenic diseases that are found in many populations worldwide. In both disorders the clinical severity is highly variable, with the persistence of fetal haemoglobin (HbF) being one of the major ameliorating factors...

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Detalles Bibliográficos
Autores principales: Fanis, Pavlos, Kousiappa, Ioanna, Phylactides, Marios, Kleanthous, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922441/
https://www.ncbi.nlm.nih.gov/pubmed/24502199
http://dx.doi.org/10.1186/1471-2164-15-108