Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts

Samankaltaisia teoksia

• Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
  Tekijä: Bernard, Geneviève, et al.
  Julkaistu: (2011)
• Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415
  Tekijä: Bernard, Geneviève, et al.
  Julkaistu: (2012)
• POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
  Tekijä: Coulombe, Benoit, et al.
  Julkaistu: (2021)
• Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy
  Tekijä: Saitsu, Hirotomo, et al.
  Julkaistu: (2011)
• Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy
  Tekijä: Tétreault, Martine, et al.
  Julkaistu: (2011)