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

Lignende værker

• Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families
  af: Hebrard, Maxime, et al.
  Udgivet: (2011)
• Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations
  af: Bocquet, Béatrice, et al.
  Udgivet: (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.
  af: Gaël Manes, et al.
  Udgivet: (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
  af: Manes, Gaël, et al.
  Udgivet: (2014)
• 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.
  af: Gaël Manes, et al.
  Udgivet: (2014-01-01)