MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
采用MLPA结合靶向NGS技术检测秘鲁疑似DMD/DMB患者肌营养不良蛋白基因突变。
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.1759
Guevara-Fujita, María Luisa; Huaman-Dianderas, Francia; Obispo, Daisy; Sánchez, Rodrigo; Barrenechea, Victor; Rojas-Málaga, Diana; Estrada-Cuzcano, Alejandro; Trubnykova, Milana; Cornejo-Olivas, Mario; Marca, Victoria; Gallardo, Bertha; Dueñas-Roque, Milagros; Protzel, Ana; Castañeda, Carlos; Abarca, Hugo; Celis, Luis; La Serna-Infantes, Jorge; Fujita, Ricardo