Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing

BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle-wasting disease caused by a mutation in the DMD gene. The aim of this study was to identify a de novo mutation of the DMD gene in the family of a 9-month-old Chinese male patient, as well as to describe the phenotypic char...

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Detalles Bibliográficos
Autores principales: Wu, Beibei, Wang, Liying, Dong, Ting, Jin, Jiahui, Lu, Yili, Wu, Huiping, Luo, Yue, Shan, Xiaoou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364719/
https://www.ncbi.nlm.nih.gov/pubmed/28344651
http://dx.doi.org/10.1186/s13039-017-0301-0

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