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Sullivan L.S. , Heckenlively J.R. , Bowne S.J. , Zuo J. , Hide W.A. , Gal A. , Denton M. , Inglehearn C.F. , Blanton S.H. , Daiger S.P.
Nat. Genet.22:255-259(1999) [PubMed] [Europe PMC] [Abstract]

"Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa."
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Nat. Genet.22:248-254(1999) [PubMed] [Europe PMC] [Abstract]

"A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus."
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Hum. Mol. Genet.8:1541-1546(1999) [PubMed] [Europe PMC] [Abstract]

"DNA sequence and analysis of human chromosome 8."
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Nature439:331-335(2006) [PubMed] [Europe PMC] [Abstract]

"Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors."
Liu Q. , Zhou J. , Daiger S.P. , Farber D.B. , Heckenlively J.R. , Smith J.E. , Sullivan L.S. , Zuo J. , Milam A.H. , Pierce E.A.
Invest. Ophthalmol. Vis. Sci.43:22-32(2002) [PubMed] [Europe PMC] [Abstract]

"RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation."
Audo I. , Mohand-Said S. , Dhaenens C.M. , Germain A. , Orhan E. , Antonio A. , Hamel C. , Sahel J.A. , Bhattacharya S.S. , Zeitz C.
Hum. Mutat.33:73-80(2012) [PubMed] [Europe PMC] [Abstract]

"Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa."
Bowne S.J. , Daiger S.P. , Hims M.M. , Sohocki M.M. , Malone K.A. , McKie A.B. , Heckenlively J.R. , Birch D.G. , Inglehearn C.F. , Bhattacharya S.S. , Bird A. , Sullivan L.S.
Hum. Mol. Genet.8:2121-2128(1999) [PubMed] [Europe PMC] [Abstract]

"RP1 protein truncating mutations predominate at the RP1 adRP locus."
Payne A. , Vithana E. , Khaliq S. , Hameed A. , Deller J. , Abu-Safieh L. , Kermani S. , Leroy B.P. , Mehdi S.Q. , Moore A.T. , Bird A.C. , Bhattacharya S.S.
Invest. Ophthalmol. Vis. Sci.41:4069-4073(2000) [PubMed] [Europe PMC] [Abstract]

"Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1)."
Berson E.L. , Grimsby J.L. , Adams S.M. , McGee T.L. , Sweklo E. , Pierce E.A. , Sandberg M.A. , Dryja T.P.
Invest. Ophthalmol. Vis. Sci.42:2217-2224(2001) [PubMed] [Europe PMC] [Abstract]

"Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene."
Fujita Y. , Ezura Y. , Emi M. , Ono S. , Takada D. , Takahashi K. , Uemura K. , Iino Y. , Katayama Y. , Bujo H. , Saito Y.
J. Hum. Genet.48:305-308(2003) [PubMed] [Europe PMC] [Abstract]

"Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa."
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J. Med. Genet.42:436-438(2005) [PubMed] [Europe PMC] [Abstract]

"A novel missense RP1 mutation in retinitis pigmentosa."
Chiang S.W. , Wang D.Y. , Chan W.M. , Tam P.O. , Chong K.K. , Lam D.S. , Pang C.P.
Eye20:602-605(2006) [PubMed] [Europe PMC] [Abstract]

"Molecular characterization of retinitis pigmentosa in Saudi Arabia."
Aldahmesh M.A. , Safieh L.A. , Alkuraya H. , Al-Rajhi A. , Shamseldin H. , Hashem M. , Alzahrani F. , Khan A.O. , Alqahtani F. , Rahbeeni Z. , Alowain M. , Khalak H. , Al-Hazzaa S. , Meyer B.F. , Alkuraya F.S.
Mol. Vis.15:2464-2469(2009) [PubMed] [Europe PMC] [Abstract]

"Differential pattern of RP1 mutations in retinitis pigmentosa."
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Mol. Vis.16:1353-1360(2010) [PubMed] [Europe PMC] [Abstract]

"Next-generation genetic testing for retinitis pigmentosa."
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Hum. Mutat.33:963-972(2012) [PubMed] [Europe PMC] [Abstract]