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

समान संसाधन

• The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions
  द्वारा: Anteneová, Nicole, और अन्य
  प्रकाशित: (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
  द्वारा: Ondruskova, Nina, और अन्य
  प्रकाशित: (2020)
• Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
  द्वारा: Vondráčková, Alžběta, और अन्य
  प्रकाशित: (2014)
• Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
  द्वारा: Danhelovska, Tereza, और अन्य
  प्रकाशित: (2020)
• ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
  द्वारा: Farolfi, Martina, और अन्य
  प्रकाशित: (2021)