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Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy
OBJECTIVES: To identify the underlying gene mutation in a large consanguineous Pakistani family. METHODS: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences,...
Autores principales: | Ullah, Muhammad I., Ahmad, Arsalan, Žarković, Milena, Shah, Syed S., Nasir, Abdul, Mahmood, Saqib, Ahmad, Wasim, Hübner, Christian A., Hassan, Muhammad J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Saudi Medical Journal
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787628/ https://www.ncbi.nlm.nih.gov/pubmed/29209666 http://dx.doi.org/10.15537/smj.2017.12.20989 |
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