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Results 1 - 10 of 17 for Retinitis pigmentosa 1
  1. 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
  2. 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
  3. 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
  4. RPGR gene 
    ... AND SINORESPIRATORY INFECTIONS WITH OR 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. RPE65 gene 
    ... j.preteyeres.2008.05.003. Epub 2008 Jun 1. Citation on PubMed Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  10. TTPA gene 
    ... 34. doi: 10.1016/s0022-2836(03)00724-1. Citation on PubMed ... report of retinitis pigmentosa with vitamin E deficiency caused by mutation of ...
    https://medlineplus.gov/genetics/gene/ttpa - Genetics
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