Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Gelijkaardige items

• Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
  door: Metodiev, Metodi D., et al.
  Gepubliceerd in: (2016)
• Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood
  door: Metodiev, Metodi D, et al.
  Gepubliceerd in: (2015)
• De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities
  door: Sommerville, Ewen W., et al.
  Gepubliceerd in: (2017)
• High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood
  door: Collet, Marie, et al.
  Gepubliceerd in: (2016)
• Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
  door: Alston, Charlotte L, et al.
  Gepubliceerd in: (2012)