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A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy

Detalles Bibliográficos
Autores principales:	Al-Hashim, Aqeela, Gonorazky, Hernan D., Amburgey, Kimberly, Das, Soma, Dowling, James J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2017
Materias:	Clinical/Scientific Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570672/ https://www.ncbi.nlm.nih.gov/pubmed/28852708 http://dx.doi.org/10.1212/NXG.0000000000000182

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