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Results 1 - 10 of 16 for "Cone-rod" dystrophy 15
  1. RPGR gene 
    ... parts of the body. COD1 CORDX1 CRD PCDX retinitis pigmentosa 15 retinitis pigmentosa 3 GTPase regulator RP15 RP3 RPGR_HUMAN X- ... Bamiou DE, Hardcastle AJ. RPGR mutation associated with retinitis pigmentosa, ... J Med Genet. 2003 Aug;40(8):609-15. doi: 10.1136/jmg.40.8.609. No ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  2. USH2A gene 
    ... common cause of the autosomal recessive form of retinitis pigmentosa, accounting for 10 to 15 percent of all cases. This form of the disorder is described as nonsyndromic, which means that it is not associated with ... pigmentosa change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  3. RP2 gene 
    ... in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. Hum Mol Genet. 2002 Nov 15;11(24):3065-74. doi: 10.1093/hmg/ ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  4. PRPH2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... Holder GE, Bradshaw K, Hunt DM, Moore AT. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  5. CRB1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  6. CNGB3 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... j.ophtha.2009.09.008. Epub 2010 Jan 15. Citation on PubMed Wiszniewski W, Lewis RA, Lupski ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  7. PDE6C gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition ACHM5 cGMP phosphodiesterase ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
  8. CNGA3 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... j.ophtha.2009.09.008. Epub 2010 Jan 15. Citation on PubMed Trankner D, Jagle H, Kohl ...
    https://medlineplus.gov/genetics/gene/cnga3 - Genetics
  9. RHO gene 
    ... light that remains stable (stationary) over time. Unlike retinitis pigmentosa (described below), autosomal dominant congenital stationary night blindness ...
    https://medlineplus.gov/genetics/gene/rho - Genetics
  10. BEST1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition BEST1 gene mutations ... individuals with eye abnormalities similar to those in retinitis pigmentosa, although some doctors think these individuals have a ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
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