Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Podobne zapisy

• Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
  od: Bernard, Geneviève, i wsp.
  Wydane: (2011)
• Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415
  od: Bernard, Geneviève, i wsp.
  Wydane: (2012)
• More Than Hypomyelination in Pol-III Disorder
  od: Vanderver, Adeline, i wsp.
  Wydane: (2013)
• Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200
  od: Choquet, Karine, i wsp.
  Wydane: (2019)
• Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation
  od: Choquet, Karine, i wsp.
  Wydane: (2017)