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Results 1 - 8 of 8 for "Cone-rod" dystrophy 19
  1. ... Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet. 1998 Aug;19(4):327-32. doi: 10.1038/1214. Citation ...
  2. ... CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F CONE-ROD DYSTROPHY, X-LINKED, 3; ... X-linked congenital stationary night blindness. Nat Genet. 1998 Jul;19(3):264-7. doi: 10.1038/947. Citation ...
  3. ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition ... NCBI Gene ClinVar Bredrup C, Saunier S, ...
  4. ... Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004. Citation on ... bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009 Nov;85(5): ...
  5. ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... cGMP-gated cation channel. Nat Genet. 1998 Jul;19(3):257-9. doi: 10.1038/935. Citation ...
  6. ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition ACHM5 cGMP phosphodiesterase ...
  7. ... to have DFNB12 have developed the vision disorder retinitis pigmentosa later in life, which is characteristic of Usher ... lack of this protein in the retina causes retinitis pigmentosa, a condition in which light-sensing cells of ...
  8. ... people with a condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration). HARP was historically described as ...