Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients

INTRODUCTION: Abnormality in HBB results in an inherited recessive blood disorder, which can be caused by variants at the transcriptional or translational level affecting the stability and the production of the HBB chain. The severity of the disease relies on the variant’s characteristics. This stud...

Descripción completa

Detalles Bibliográficos
Autores principales: Aldakeel, Sumayh A., Ghanem, Neda Z., Al-Amodi, Amani M., Osman, Ahoud Khalid, Al Asoom, Lubna Ibrahim, Ahmed, Nazish Rafique, Almandil, Noor B., Akhtar, Mohammed Shakil, Azeez, Sayed Abdul, Borgio, J. Francis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2019
Materias:
Basic Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069418/
https://www.ncbi.nlm.nih.gov/pubmed/32190157
http://dx.doi.org/10.5114/aoms.2019.84825

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069418/
https://www.ncbi.nlm.nih.gov/pubmed/32190157
http://dx.doi.org/10.5114/aoms.2019.84825

Ejemplares similares