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A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

BACKGROUND: Mitochondrial diseases present with variable multi-organ symptoms. Common disease-causing mutations in mitochondrial DNA (mtDNA) are regularly screened in diagnostic work-up, but novel mutations may remain unnoticed. METHODS: Patients (N = 66) with a clinical suspicion of mitochondrial d...

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Detalles Bibliográficos
Autores principales:	Soini, Heidi K., Väisänen, Antti, Kärppä, Mikko, Hinttala, Reetta, Kytövuori, Laura, Moilanen, Jukka S., Uusimaa, Johanna, Majamaa, Kari
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303298/ https://www.ncbi.nlm.nih.gov/pubmed/28187756 http://dx.doi.org/10.1186/s12881-017-0377-8

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