The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions

Lignende værker

• The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions
  af: Anteneová, Nicole, et al.
  Udgivet: (2020)
• Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation
  af: Ondruskova, Nina, et al.
  Udgivet: (2020)
• Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
  af: Vondráčková, Alžběta, et al.
  Udgivet: (2014)
• Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
  af: Danhelovska, Tereza, et al.
  Udgivet: (2020)
• ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
  af: Farolfi, Martina, et al.
  Udgivet: (2021)