A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

Samankaltaisia teoksia

• Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families
  Tekijä: Hebrard, Maxime, et al.
  Julkaistu: (2011)
• Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations
  Tekijä: Bocquet, Béatrice, et al.
  Julkaistu: (2013)
• A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.
  Tekijä: Gaël Manes, et al.
  Julkaistu: (2014-01-01)
• A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit
  Tekijä: Manes, Gaël, et al.
  Julkaistu: (2014)
• Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations
  Tekijä: Manes, Gaël, et al.
  Julkaistu: (2017)