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"Cone-rod" dystrophy 19
- ... Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet. 1998 Aug;19(4):327-32. doi: 10.1038/1214. Citation ...
- ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition ... NCBI Gene ClinVar Bredrup C, Saunier S, ...
- ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Variants in the ... EM, Alitalo T, Bech-Hansen NT. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the ...
- ... 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): ...
- ... 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 ...
- ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition ACHM5 cGMP phosphodiesterase ...
- ... 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 ...
- ... people with a condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration). HARP was historically described as ...