1RIVOLTA C,SHARON D,DEANGELIS M M,et al.Retinitis pigmentosa and allied diseases:numerous diseases,genes,and inheritance patterns[J].Hum Mol Genet,2002,11(10):1219-1221.
2DRYJA T P,LI T.Molecular genetics of rctinitis pigmentosa[J].Hum Mol Genet,1995,4(1):1739-1743.
3DAIGER S P,SULLIVAN L S,GIRE A I,et al.Mutations in known genes accont for 58% of autosomal dominant retinitis pigmentosa(adRP)[J].Adv Exp Med Biol,2008,613:203-209.
4BRISCOE A D,GAUR C,KUMAR S.The spectrum of human rhodopsin disease mutations through the lens of intempecific variation[J].Gene,2004,332(12):107-118.
5KAJIWARA K,HAHN L B,MUKAI S,et al.Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis piganentosa[J].Nature,1991,354(6353):480-483.
6FARRAR G J,JORDAN S A,KENNA P,et al.Autosomal dominant retinitis pigmentosa:local-zationof a disease gene(RP6)to the short arm of chromosome 6[J].Genomics,1991,11(4):870-874.
7SULLIVAN L S,BOWNE S J,SEAMAN C R,et al.Genomic rearrangements of the PRP31 gene account for 2.5% of autosomal dominant retinitis pigmentosa[J].Invest Ophthalmol Vis Sci,2006,47(10):4579-4588.
8SHENG X,ZHANG X,WU W,et al.Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa[J].Can J Ophthalmol,2008,43(2):208-212.
9PIERCE E A,QUINN T,MEEHAN T,et al.Mutations in a gene encoding a new Oxsygon regulated photoreceptor protein cause dominant retinitis pigmentosa[J].Nature Gene,1999,22(3):248-254.
10COPPIETERS F,LEROY B P,BEYSEN D,et al.Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa[J].Am J Hum Genet,2007,81(1):147-157.
二级参考文献15
1Schwahn U.Positional cloning of the gene for X-linked retinitis pigmentosa 2[J],1998(4).
2Roepman R;Van Duijnhoven G;Rosenberg T;Pinckers AJLG,Bleeker-Wagemakers LM,Bergen AAB.Positional cloning of the gene for X-linked retinitis pigmentosa 3:homology with the guanine-nucleotide-exchange factor RCC1[J],1996(05).
3Miano MG;Testa F;Strazzullo M;Trujillo M,De Bernardo C,Grammatico B.Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa[J],1999(6).
4Dryja TP;Li T.Molecular genetics of retinitis pigmentosa,1995(04).
5Fishman GA;Farber MD;Derlacki DJ.X-linked retinitis pigmentosa:profile of clinnical findings,1988.
6Meindl A;Dry K;Herrmann K.A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3),1988(13).
8Schwartz DC;Cantor CR.Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis[J],1984.
9Buraczynska M;Wu W;Fujita R.Spectrum of mutations in the RPGR gene that are identified in 20% of famlies with X-linked retinitis pigmentosa,1997.
10Zito I;Thiselton DL;Gorin MB.Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus[J],1999(105).
4vila-Fernandez A, Cantalapiedra D, Aller E, et al. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis, 2010,16 : 2550-2558.
5Yong RY, Chee CK, Yap EP. A two-stage approach identities a Q344X mutation in the rhodopsin gene of a Chinese Singaporean family with autosomal dominant retinitis pigmentosa. Ann Acad Med Singapore, 2005,34 : 94-99.
6The Retinal Information Network, provided in the public domain by the University of Texas Houston Health Science Center, Houston, TX. [ 2011-6-1]. http://www. sph. uth. tmc. edu/ RetNet/.
7Briscoe AD, Gaur C, Kumar S. The spectrum of human rhodopsin disease mutations through the lens of interspecific variation. Gene,2004,332 : 107-118.
8Sheng XL, Li ZL, Zhang XF, et al. A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family. Mol Vis, 2010, 16: 1620-1628.
9Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, et al. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosls genotyping microarray. Invest Ophthalmol Vis Sci, 2007,48:5653-5661.
10Sullivan LS, Bowne SJ, Birch DG, et al. Prevalence of disease- causing mutations in families with autosomal dominant retinitis plgmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci,2006,47:3052-3064.
