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6 p, 514.0 KB Canine MPV17 truncation without clinical manifestations / Hänninen, Reetta L. (Helsingin yliopisto. Department of Veterinary Biosciences) ; Ahonen, Saija (Helsingin yliopisto. Department of Veterinary Biosciences) ; Márquez Martínez, Mercedes (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ; Myöhänen, Maarit J. (Helsingin yliopisto) ; Hytönen, Marjo K. (Helsingin yliopisto. Department of Veterinary Biosciences) ; Lohi, Hannes (Helsingin yliopisto. Department of Veterinary Biosciences)
Mitochondrial DNA depletion syndromes (MDS) are often serious autosomal recessively inherited disorders characterized by tissue-specific mtDNA copy number reduction. Many genes, including MPV17, are associated with the hepatocerebral form of MDS. [...]
2015 - 10.1242/bio.013870
Biology open, Vol. 4 (2015) , p. 1253-1258  

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