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Results 1 - 10 of 11 for Cone dystrophy 3
  1. GUCY2D gene 
    ... Nakamura M, Ohnishi Y, Miyake Y. Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. Jpn J Ophthalmol. 2004 May-Jun;48(3):228-35. doi: 10.1007/s10384-003-0050- ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  2. PDE6C gene 
    ... Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition ACHM5 cGMP phosphodiesterase 6C COD4 cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' PDEA2 phosphodiesterase 6C, ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
  3. CNGB3 gene 
    ... cause achromatopsia and others result in progressive cone dystrophy. ACHM3 CNGB3_HUMAN cone photoreceptor ... NCBI Gene ClinVar Johnson S, Michaelides M, ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  4. CNGA3 gene 
    ... cause achromatopsia and others result in progressive cone dystrophy. ACHM2 CCNC1 CCNCa CCNCalpha CNCG3 CNG3 CNGA3_HUMAN cone photoreceptor cGMP-gated channel alpha subunit Tests of CNGA3 PubMed CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3 NCBI Gene ClinVar Johnson S, Michaelides M, ...
    https://medlineplus.gov/genetics/gene/cnga3 - Genetics
  5. RPGR gene 
    ... CORDX1 CRD PCDX retinitis pigmentosa 15 retinitis pigmentosa 3 GTPase regulator RP15 RP3 RPGR_HUMAN X-linked retinitis pigmentosa GTPase regulator XLRP3 ... NCBI Gene ClinVar Ayyagari ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  6. CRX gene 
    ... rod homeobox protein CORD2 CRD LCA7 orthodenticle homeobox 3 OTX3 ... Huang L, Li S, Xiao X, Jia X, Wang P, Guo X, Zhang Q. Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. Mol Med Rep. 2013 Jun;7(6):1779- ...
    https://medlineplus.gov/genetics/gene/crx - Genetics
  7. OPN1SW gene 
    ... Neitz M. Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency. J Opt Soc ... on PubMed Central Calkins DJ. Seeing with S cones. Prog Retin Eye Res. 2001 May;20(3):255-87. doi: 10.1016/s1350-9462(00) ...
    https://medlineplus.gov/genetics/gene/opn1sw - Genetics
  8. 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
  9. GNAT2 gene 
    ... Mollon JD, Maher ER, Hunt DM, Moore AT. Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in ... AL, Baumert U, Loyer M, Koenekoop RK. A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. Mol Vis. 2004 Apr 8;10: ...
    https://medlineplus.gov/genetics/gene/gnat2 - Genetics
  10. CACNA1F gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
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