MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
María Luisa Guevara-FujitaFrancia Huaman-DianderasDaisy ObispoRodrigo SánchezVictor BarrenecheaDiana Rojas-MálagaAlejandro Estrada-CuzcanoMilana TrubnykovaMario Cornejo-OlivasVictoria MarcaBertha GallardoMilagros Dueñas-RoqueAna ProtzelCarlos CastañedaHugo Hernán Abarca BarrigaLuis CelisJorge La Serna-InfantesRicardo FujitaPublished in: Molecular genetics & genomic medicine (2021)
Due to our genetic background, we expected a higher number of novel and recurrent causal mutations in our sample. Results showed 16% of novel mutations, similar to other well-studied populations.