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Screening of Duchenne Muscular Dystrophy (DMD) Mutations and Investigating Its Mutational Mechanism in Chinese Patients

Duchenne muscular dystrophy (DMD) is a common X-linked recessive disease of muscle degeneration and death. In order to provide accurate and reliable genetic counseling and prenatal diagnosis, we screened DMD mutations in a cohort of 119 Chinese patients using multiplex ligation-dependent probe ampli...

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Detalles Bibliográficos
Autores principales: Chen, Chen, Ma, Hongwei, Zhang, Feng, Chen, Lu, Xing, Xuesha, Wang, Shusen, Zhang, Xue, Luo, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4171529/
https://www.ncbi.nlm.nih.gov/pubmed/25244321
http://dx.doi.org/10.1371/journal.pone.0108038