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Results 1 - 10 of 36 for Retinitis pigmentosa 2
  1. RP2 gene 
    ... DELXp11.3 KIAA0215 NM23-H10 NME10 protein XRP2 retinitis pigmentosa 2 (X-linked recessive) TBCCD2 XRP2 XRP2_HUMAN Tests ... AJ, Cheetham ME. Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2. Exp Eye Res. 2006 Apr;82( ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  2. Retinitis pigmentosa 
    ... Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol. 2007 Feb;125(2):151-8. doi: 10.1001/archopht.125.2.151. Citation on PubMed or Free article on PubMed Central ... autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol. 2008;613:203- ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  3. CRB1 gene 
    ... in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet. 1999 Oct;23(2):217-21. doi: 10.1038/13848. Citation on ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  4. PRPH2 gene 
    ... TSPAN22 Tests of PRPH2 PubMed FUNDUS ALBIPUNCTATUS PERIPHERIN 2; PRPH2 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 RETINITIS PIGMENTOSA 7; RP7 NCBI Gene ClinVar Boon CJ, den ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  5. WDR19 gene 
    ... intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196. Citation ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics
  6. Neuropathy, ataxia, and retinitis pigmentosa 
    ... of a spectrum of overlapping features rather than two distinct syndromes. NARP NARP syndrome Neurogenic muscle weakness, ataxia, and retinitis pigmentosa Neuropathy, ataxia, and retinitis pigmentos Genetic Testing Registry: ...
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  7. RPGR gene 
    ... within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet. 2000 Aug;25(4):462-6. doi: 10.1038/78182. Citation on PubMed Wright AF, Shu X. Focus on Molecules: RPGR. Exp Eye Res. 2007 Jul;85(1):1-2. doi: 10.1016/j.exer.2006.03.006. ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  8. TRNT1 deficiency 
    ... deficiency encompasses what was first thought to be two separate disorders, a ... pigmentosa with erythrocytic microcytosis (RPEM), each named for its ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  9. PANK2 gene 
    ... people with a condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis ... Tests of ...
    https://medlineplus.gov/genetics/gene/pank2 - Genetics
  10. Mitochondrial complex V deficiency 
    ... have cognitive impairment and an eye disorder called retinitis pigmentosa that ... results in death within 2 to 3 years after the onset of symptoms. ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
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