MLPA followed by target ‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

ConclusionDue 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.

Source: Molecular Genetics & Genomic Medicine - July 30, 2021 Category: Genetics & Stem Cells Authors: Mar ía Luisa Guevara‐Fujita, Francia Huaman‐Dianderas, Daisy Obispo, Rodrigo Sánchez, Victor Barrenechea, Diana Rojas‐Málaga, Alejandro Estrada‐Cuzcano, Milana Trubnykova, Mario Cornejo‐Olivas, Victoria Marca, Bertha Gallardo, Mila Tags: ORIGINAL ARTICLE Source Type: research