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Results 1 - 10 of 69 for Retinitis pigmentosa 2
  1. ... 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( ...
  2. ... 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- ...
  3. ... 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 ...
  4. ... 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 ...
  5. ... 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 ...
  6. Mitochondrial Disorders From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Muscle Disorders/Specifics ... Muscle Disorders ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases
  7. Leigh Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... National Institute of Neurological ...
  8. Mitochondrial DNA Depletion Syndrome (Alpers' Disease) From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Mitochondrial Diseases/Specifics
  9. Kearns-Sayre Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Eye Diseases/Specifics ... Eye Diseases ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... National Institute of Neurological Disorders and Stroke ... From ...
  10. ... 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: ...
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