MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

por Ballana, Ester, Mercader, Josep Maria, Fischel-Ghodsian, Nathan, Estivill, Xavier
Publicado 2007

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations

por Mangum, Joshua E., Hardee, Justin P., Fix, Dennis K., Puppa, Melissa J., Elkes, Johnathon, Altomare, Diego, Bykhovskaya, Yelena, Campagna, Dean R., Schmidt, Paul J., Sendamarai, Anoop K., Lidov, Hart G. W., Barlow, Shayne C., Fischel-Ghodsian, Nathan, Fleming, Mark D., Carson, James A., Patton, Jeffrey R.
Publicado 2016