Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

Gelijkaardige items

• A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness
  door: Mahmood, Usman, et al.
  Gepubliceerd in: (2021)
• A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family
  door: Vincent, Ajoy, et al.
  Gepubliceerd in: (2011)
• Congenital Stationary Night Blindness without Ophthalmoscopic or Other Abnormalities
  door: Carroll, Frank D., et al.
  Gepubliceerd in: (1952)
• Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.
  door: Bergen, A A, et al.
  Gepubliceerd in: (1994)
• Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity.
  door: Bech-Hansen, N T, et al.
  Gepubliceerd in: (1993)