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,...

Descripción completa

Detalles Bibliográficos
Autores principales: Ullah, Muhammad I., Ahmad, Arsalan, Žarković, Milena, Shah, Syed S., Nasir, Abdul, Mahmood, Saqib, Ahmad, Wasim, Hübner, Christian A., Hassan, Muhammad J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2017
Materias:
Original Article
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

Internet

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

Ejemplares similares