Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Gelijkaardige items

• Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy
  door: Tuppen, Helen AL, et al.
  Gepubliceerd in: (2012)
• A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations
  door: Yarham, John W., et al.
  Gepubliceerd in: (2012)
• Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome
  door: Naess, Karin, et al.
  Gepubliceerd in: (2011)
• Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy
  door: Lehmann, Diana, et al.
  Gepubliceerd in: (2015)
• A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency
  door: Wong, L‐J C, et al.
  Gepubliceerd in: (2006)