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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...
Autores principales: | Chen, Chen, Ma, Hongwei, Zhang, Feng, Chen, Lu, Xing, Xuesha, Wang, Shusen, Zhang, Xue, Luo, Yang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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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 |
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