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Results 1 - 10 of 15 for "Cone-rod" dystrophy 11
  1. CRX gene 
    ... Q. Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. PLoS One. 2013 Jun 11;8(6):e65546. doi: 10.1371/journal.pone. ...
    https://medlineplus.gov/genetics/gene/crx - Genetics
  2. RHO gene 
    ... Cheetham ME. Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy. Trends Mol Med. 2005 Apr;11(4):177-85. doi: 10.1016/j.molmed. ...
    https://medlineplus.gov/genetics/gene/rho - 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/11. ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  4. RPGR gene 
    ... Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. J Med Genet. 2003 Nov;40(11):e118. doi: 10.1136/jmg.40.11.e118. ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  5. GUCY2D gene 
    ... degeneration. Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5015-23. doi: ... patients with dominant cone-rod dystrophies. J Med Genet. 2001 Sep;38(9):611- ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  6. TTPA gene 
    ... T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with ... protein. Biochemistry. 2006 Jul 11;45(27):8236-42. doi: 10.1021/bi060522c. ...
    https://medlineplus.gov/genetics/gene/ttpa - Genetics
  7. USH2A gene 
    ... Sci U S A. 2007 Mar 13;104(11):4413-8. doi: 10.1073/pnas.0610950104. Epub 2007 Mar ... II or non-syndromic retinitis pigmentosa. J Med Genet. 2010 Jul;47(7):499- ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  8. RPE65 gene 
    ... all-trans retinal cannot be converted back to 11-cis retinal, and excess all-trans retinal ... all-trans-retinyl- ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  9. 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
  10. MYO7A gene 
    ... were thought to have nonsyndromic hearing loss developed retinitis pigmentosa (a vision disorder characteristic of Usher syndrome) later ... However, other individuals diagnosed with DFNB2 never develop retinitis pigmentosa, and recent studies indicate that DFNB2 and Usher ...
    https://medlineplus.gov/genetics/gene/myo7a - Genetics
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