Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion

Gelijkaardige items

• Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion
  door: Matilainen, Sanna, et al.
  Gepubliceerd in: (2015)
• Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy
  door: Ahola, Sofia, et al.
  Gepubliceerd in: (2014)
• SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease
  door: Gut, Philipp, et al.
  Gepubliceerd in: (2020)
• Neonatal Retinoblastoma
  door: Kivelä, Tero T., et al.
  Gepubliceerd in: (2017)
• Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy
  door: Vasilescu, Catalina, et al.
  Gepubliceerd in: (2017)