Publications:

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

Genes

Alcántara-Ortigoza, Miguel Angel MA; Reyna-Fabián, Miriam Erandi ME; González-Del Angel, Ariadna A; Estandia-Ortega, Bernardette B; Bermúdez-López, Cesárea C; Cruz-Miranda, Gabriela Marisol GM; Ruíz-García, Matilde M

Publication Date: 2019-10-29

Variant appearance in text: DMD: 2281_2285del; Glu761Serfs

PubMed Link: 31671740

Variant Present in the following documents:

• Main text
• genes-10-00856.pdf

View BVdb publication page

Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.

Plos One

Chen, Chen C; Ma, Hongwei H; Zhang, Feng F; Chen, Lu L; Xing, Xuesha X; Wang, Shusen S; Zhang, Xue X; Luo, Yang Y

Publication Date: 2014

Variant appearance in text: DMD: 2281_2285delGAAAA; Glu761Serfs*10

PubMed Link: 25244321

Variant Present in the following documents:

• Main text
• pone.0108038.pdf

View BVdb publication page