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

Ítems similars

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