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Volumn 51, Issue 8, 2010, Pages 4266-4272

Erratum to: Identification of novel mutations in the ortholog of drosophila Eyes Shut Gene (EYS) causing autosomal recessive retinitis pigmentosa (Investigative Ophthalmology and Visual Science (2010), 51, (4266-4272), 10.1167/iovs.09-5109);Identification of novel mutations in the ortholog of drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; BRITISH; CHINESE; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; ELECTRORETINOGRAPHY; ETHNIC GROUP; EXON; EYS GENE; FUNDUS PHOTOGRAPHY; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPHTHALMOLOGY; PATHOGENESIS; PHENOTYPIC VARIATION; PHOTOGRAPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY; ADULT; FEMALE; GENETICS; MALE; MUTATION; PEDIGREE; PHYSIOLOGY; RECESSIVE GENE;

EID: 77955877092     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs-09-5109a     Document Type: Erratum
Times cited : (51)

References (19)
  • 2
    • 0346373649 scopus 로고    scopus 로고
    • Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26)
    • Tuson M, Marfany G, Gonzalez-Duarte R. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). Am J Hum Genet. 2004;74:128-138.
    • (2004) Am J Hum Genet , vol.74 , pp. 128-138
    • Tuson, M.1    Marfany, G.2    Gonzalez-Duarte, R.3
  • 3
    • 0031748893 scopus 로고    scopus 로고
    • A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gammaaminobutyric acid-receptor clusters
    • Ruiz A, Borrego S, Marcos I, Antinolo G. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gammaaminobutyric acid-receptor clusters. Am J Hum Genet. 1998;62: 1452-1459.
    • (1998) Am J Hum Genet , vol.62 , pp. 1452-1459
    • Ruiz, A.1    Borrego, S.2    Marcos, I.3    Antinolo, G.4
  • 4
    • 0033365206 scopus 로고    scopus 로고
    • Refinement of the locus for autosomal recessive retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin
    • Khaliq S, Hameed A, Ismail M, et al. Refinement of the locus for autosomal recessive retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin. J Hum Genet. 1999;65: 571-574.
    • (1999) J Hum Genet , vol.65 , pp. 571-574
    • Khaliq, S.1    Hameed, A.2    Ismail, M.3
  • 5
    • 34247153975 scopus 로고    scopus 로고
    • A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa
    • Abd El-Aziz MM, El-Ashry MF, Chan WM, et al. A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa. Ann Hum Genet. 2007;71:281-294.
    • (2007) Ann Hum Genet , vol.71 , pp. 281-294
    • Abd El-Aziz, M.M.1    El-Ashry, M.F.2    Chan, W.M.3
  • 6
    • 55049090812 scopus 로고    scopus 로고
    • EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa
    • Abd El-Aziz MM, Barragan I, O'Driscoll CA, et al. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat Genet. 2008;40:1285-1287.
    • (2008) Nat Genet , vol.40 , pp. 1285-1287
    • Abd El-Aziz, M.M.1    Barragan, I.2    O'Driscoll, C.A.3
  • 7
    • 84954358158 scopus 로고    scopus 로고
    • Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa
    • Collin RW, Littink KW, Klevering BJ, et al. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet. 2008;83:594-603.
    • (2008) Am J Hum Genet , vol.83 , pp. 594-603
    • Collin, R.W.1    Littink, K.W.2    Klevering, B.J.3
  • 9
    • 0026878962 scopus 로고
    • A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
    • Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1992;1:209-213.
    • (1992) Nat Genet , vol.1 , pp. 209-213
    • Rosenfeld, P.J.1    Cowley, G.S.2    McGee, T.L.3    Sandberg, M.A.4    Berson, E.L.5    Dryja, T.P.6
  • 10
    • 0344586932 scopus 로고    scopus 로고
    • A rare homozygous rhodopsin splice-site mutation: The issue of when and whether to offer presymptomatic testing
    • Greenberg J, Roberts L, Ramesar R. A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing. Ophthalmic Genet. 2003;24:225-232.
    • (2003) Ophthalmic Genet , vol.24 , pp. 225-232
    • Greenberg, J.1    Roberts, L.2    Ramesar, R.3
  • 11
    • 18844390690 scopus 로고    scopus 로고
    • Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa
    • Khaliq S, Abid A, Ismail M, et al. Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. J Med Genet. 2005;42:436-438.
    • (2005) J Med Genet , vol.42 , pp. 436-438
    • Khaliq, S.1    Abid, A.2    Ismail, M.3
  • 12
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • In: Krawetz S, Misener S, eds., Totowa, NJ: Humana Press
    • Rozen S, Skaletsky HJ. Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S, Misener S, eds. Bioinformatics Methods and Protocols: Methods in Molecular Biology. Totowa, NJ: Humana Press; 2000:365-386.
    • (2000) Bioinformatics Methods and Protocols: Methods In Molecular Biology , pp. 365-386
    • Rozen, S.1    Skaletsky, H.J.2
  • 13
    • 29144523957 scopus 로고    scopus 로고
    • Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus
    • Abd El-Aziz MM, El-Ashry MF, Barragan I, et al. Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus. Curr Eye Res. 2005;30: 1081-1087.
    • (2005) Curr Eye Res , vol.30 , pp. 1081-1087
    • Abd El-Aziz, M.M.1    El-Ashry, M.F.2    Barragan, I.3
  • 14
    • 0036156860 scopus 로고    scopus 로고
    • Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy
    • El-Ashry MF, Abd El-Aziz MM, Wilkins S, et al. Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2002;43:377-382.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 377-382
    • El-Ashry, M.F.1    Abd El-Aziz, M.M.2    Wilkins, S.3
  • 15
    • 27544437197 scopus 로고    scopus 로고
    • Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy
    • Sultana A, Sridhar MS, Klintworth GK, et al. Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. Clin Genet. 2005;68:454-460.
    • (2005) Clin Genet , vol.68 , pp. 454-460
    • Sultana, A.1    Sridhar, M.S.2    Klintworth, G.K.3
  • 16
    • 0029028059 scopus 로고
    • Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature
    • Baldwin CT, Hoth CF, Macina RA, Milunsky A. Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet. 1995;58:115-122.
    • (1995) Am J Med Genet , vol.58 , pp. 115-122
    • Baldwin, C.T.1    Hoth, C.F.2    Macina, R.A.3    Milunsky, A.4
  • 17
    • 34047265467 scopus 로고    scopus 로고
    • Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry
    • Alonso MJ, Heine-Suner D, Calvo M, et al. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Genet. 2006;71:194-201.
    • (2006) Ann Hum Genet , vol.71 , pp. 194-201
    • Alonso, M.J.1    Heine-Suner, D.2    Calvo, M.3
  • 19
    • 0242522413 scopus 로고    scopus 로고
    • Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers
    • Gorlov IP, Gorlova OY, Frazier ML, Amos CI. Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers. Am J Hum Genet. 2003;73:1157-1161.
    • (2003) Am J Hum Genet , vol.73 , pp. 1157-1161
    • Gorlov, I.P.1    Gorlova, O.Y.2    Frazier, M.L.3    Amos, C.I.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.