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Results 1 - 10 of 22 for "Cone-rod" dystrophy 1
  1. RPGR gene 
    ... WITHOUT DEAFNESS; RPSRDF RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 NCBI Gene ClinVar Ayyagari R, Demirci FY, ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  2. ABCA4 gene 
    ... be associated with more severe vision problems than cone-rod dystrophy caused by other genetic variants. More About This Health Condition More than 1,000 variants in the ABCA4 gene have been ...
    https://medlineplus.gov/genetics/gene/abca4 - Genetics
  3. PRPH2 gene 
    ... FUNDUS ALBIPUNCTATUS PERIPHERIN 2; PRPH2 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 RETINITIS PIGMENTOSA 7; RP7 NCBI Gene ClinVar Boon CJ, den ... Saperstein DA, Sullivan LS. Prevalence of mutations causing retinitis ... retinopathies. Hum Mutat. 2001;17(1):42-51. doi: 10.1002/1098-1004(2001) ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  4. CRB1 gene 
    ... 1 (Drosophila) LCA8 RP12 Tests of CRB1 PubMed RETINITIS PIGMENTOSA 12; RP12 CRUMBS CELL POLARITY COMPLEX COMPONENT 1; CRB1 NCBI Gene ClinVar den Hollander AI, Davis ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  5. BEST1 gene 
    ... mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009 Nov;85(5): ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  6. TRNT1 gene 
    ... EM, Slusarski DC. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ ...
    https://medlineplus.gov/genetics/gene/trnt1 - Genetics
  7. GUCY2D gene 
    ... guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod ... (retGC-1) catalytic ability consistently leads to leber congenital amaurosis ( ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  8. CLRN1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition USH3 USH3A USH3A_HUMAN Usher syndrome 3A Usher syndrome type 3 protein Tests of CLRN1 PubMed CLARIN 1; CLRN1 NCBI Gene ClinVar Adato A, Vreugde S, ...
    https://medlineplus.gov/genetics/gene/clrn1 - Genetics
  9. RP2 gene 
    ... K, Wolfrum U, Hardcastle AJ, Cheetham ME. The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium. Hum Mol Genet. 2010 Apr 1;19(7):1358-67. doi: 10.1093/hmg/ ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  10. RHO gene 
    ... of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990 Jan 25;343(6256):364-6. doi: 10.1038/343364a0. Citation on PubMed McAlear SD, Kraft TW, Gross AK. 1 rhodopsin mutations in congenital night blindness. Adv Exp ...
    https://medlineplus.gov/genetics/gene/rho - Genetics
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