Use of an automated pyrosequencing technique for confirmation of Sickle Cell Disease
CC Martino, Cecília Salete Alencar, Paula Rodrigues Andrade da Cunha Loureiro, Anna Barbara F. Carneiro‐Proietti, Cláudia Máximo, Rosimere Afonso Mota, Daniela de Oliveira Werneck Rodrigues, Nelson Gaburo, Shannon Kelly, Éster Cerdeira Sabino, for the International Component of the NHLBI Recipient Epidemiology and Donor Evaluation Study (REDS-III)
The paper develops an automated pyrosequencing technique to confirm sickle cell disease and detect HBB gene mutations, showing high accuracy in identifying hemoglobin variants.
PLoS ONE · Dec 12, 2019Peer-reviewedMolecular Biology