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Results 1 - 10 of 13 for Retinitis pigmentosa 7
  1. ... PERIPHERIN 2; PRPH2 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 RETINITIS PIGMENTOSA 7; RP7 NCBI Gene ClinVar Boon CJ, den Hollander ...
  2. ... RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol. 2010 Jul;128(7):915-23. doi: 10.1001/archophthalmol.2010.122. ...
  3. ... R, den Hollander AI. CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology. 2011 Jul;118(7):1444-8. doi: 10.1016/j.ophtha.2010. ...
  4. ... with Usher syndrome type II or non-syndromic retinitis pigmentosa. J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27. Citation on PubMed or Free article on PubMed Central ... recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis ...
  5. ... T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene. Jpn J Ophthalmol. 2001 Nov-Dec;45(6):672-6. doi: 10.1016/s0021-5155(01)00425-7. Citation on PubMed Qian J, Atkinson J, Manor ...
  6. ... 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 ...
  7. ... 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 ...
  8. ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition all-trans-retinyl- ... kDa protein retinal pigment epithelium-specific protein 65kDa retinitis pigmentosa 20 (autosomal recessive) retinoid isomerohydrolase retinol isomerase RP20 ...
  9. ... to have DFNB12 have developed the vision disorder retinitis pigmentosa later in life, which is characteristic of Usher ... lack of this protein in the retina causes retinitis pigmentosa, a condition in which light-sensing cells of ...
  10. ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition cone-rod homeobox protein CORD2 CRD LCA7 orthodenticle homeobox 3 OTX3 Tests of ... 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):1779-85. doi: 10.3892/mmr.2013. ...
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