MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
Molecular Genetics & Genomic Medicine
Guevara-Fujita, María Luisa ML; Huaman-Dianderas, Francia F; Obispo, Daisy D; Sánchez, Rodrigo R; Barrenechea, Victor V; Rojas-Málaga, Diana D; Estrada-Cuzcano, Alejandro A; Trubnykova, Milana M; Cornejo-Olivas, Mario M; Marca, Victoria V; Gallardo, Bertha B; Dueñas-Roque, Milagros M; Protzel, Ana A; Castañeda, Carlos C; Abarca, Hugo H; Celis, Luis L; La Serna-Infantes, Jorge J; Fujita, Ricardo R
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
Molecular Genetics & Genomic Medicine
Guevara-Fujita, María Luisa ML; Huaman-Dianderas, Francia F; Obispo, Daisy D; Sánchez, Rodrigo R; Barrenechea, Victor V; Rojas-Málaga, Diana D; Estrada-Cuzcano, Alejandro A; Trubnykova, Milana M; Cornejo-Olivas, Mario M; Marca, Victoria V; Gallardo, Bertha B; Dueñas-Roque, Milagros M; Protzel, Ana A; Castañeda, Carlos C; Abarca, Hugo H; Celis, Luis L; La Serna-Infantes, Jorge J; Fujita, Ricardo R
Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene.
Journal Of Zhejiang University. Science. B
Yang, Yan-Mei YM; Yan, Kai K; Liu, Bei B; Chen, Min M; Wang, Li-Ya LY; Huang, Ying-Zhi YZ; Qian, Ye-Qing YQ; Sun, Yi-Xi YX; Li, Hong-Ge HG; Dong, Min-Yue MY
Publication Date: 2019
Variant appearance in text: DMD: 3487C>T; Gln1163Ter