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Results 1 - 10 of 16 for "Cone-rod" dystrophy 5
  1. CRX gene 
    ... P, Guo X, Zhang Q. CRX variants in cone-rod dystrophy and mutation overview. Biochem Biophys Res Commun. 2012 Oct 5;426(4):498-503. doi: 10.1016/j.bbrc.2012.08.110. Epub 2012 Aug 30. Citation on PubMed Huang L, ... with cone-rod dystrophy: mutations in 25 known causative genes. PLoS One. ...
    https://medlineplus.gov/genetics/gene/crx - Genetics
  2. PDE6C gene 
    ... This Health 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, cGMP- ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
  3. BEST1 gene 
    ... a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009. ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  4. CRB1 gene 
    ... Hoyng CB, Cremers FP. Leber congenital amaurosis and retinitis pigmentosa ... Am J Hum Genet 2001 Nov;69(5):1160. Citation on PubMed or Free article on ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  5. PDE6B gene 
    ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health ... Tests of PDE6B PubMed ...
    https://medlineplus.gov/genetics/gene/pde6b - Genetics
  6. RPGR gene 
    ... 5):605-11. doi: 10.1093/hmg/11.5.605. Citation on PubMed Zito I, ... pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet. ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  7. CLRN1 gene 
    ... In: Am J Hum Genet 2001 Nov;69(5):1160. Citation on PubMed or Free article on ... nonsyndromic retinitis pigmentosa. Ophthalmology. 2011 Jul;118(7):1444-8. doi: ...
    https://medlineplus.gov/genetics/gene/clrn1 - Genetics
  8. USH2A gene 
    ... doi: 10.1073/pnas.0610950104. Epub 2007 Mar 5. Citation on PubMed or Free ... type II or non-syndromic retinitis pigmentosa. J Med Genet. 2010 Jul;47(7):499- ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  9. TRNT1 gene 
    ... 1182/blood-2014-08-591370. Epub 2014 Sep 5. Citation on PubMed or Free article ... retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan ...
    https://medlineplus.gov/genetics/gene/trnt1 - 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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