메뉴 건너뛰기
American Journal of Ophthalmology
Volumn 138, Issue 1, 2004, Pages 171-173
A novel compound heterozygous mutation in the cellular retinaldehyde- binding protein gene (RLBP1) in a patient with retinitis punctata albescens
Author keywords

[No Author keywords available]
Indexed keywords

ASPARTIC ACID; GENOMIC DNA; GLYCINE; ISOLEUCINE; RETINOID BINDING PROTEIN; THREONINE;
EID: 3042781679     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2004.02.060     Document Type: Article
Times cited : (18)
References (7)
  • 1
    • 84984763750 scopus 로고    scopus 로고
    • Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa
    • Maw M.A., Kennedy B., Knight A., et al. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nat Genet. 17:1997;198-200
    • (1997) Nat Genet , vol.17 , pp. 198-200
    • Maw, M.A.1    Kennedy, B.2    Knight, A.3
  • 2
    • 0033066974 scopus 로고    scopus 로고
    • Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26
    • Burstedt M.S., Sandgren O., Holmgren G., Forsman-Semb K. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest Ophthalmol Vis Sci. 40:1999;995-1000
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 995-1000
    • Burstedt, M.S.1    Sandgren, O.2    Holmgren, G.3    Forsman-Semb, K.4
  • 3
    • 0033066801 scopus 로고    scopus 로고
    • Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens
    • Morimura H., Berson E.L., Dryja T.P. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci. 40:1999;1000-1004
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 1000-1004
    • Morimura, H.1    Berson, E.L.2    Dryja, T.P.3
  • 4
    • 0036206758 scopus 로고    scopus 로고
    • Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1
    • Eichers E.R., Green J.S., Stockton D.W., et al. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am J Hum Genet. 70:2002;955-964
    • (2002) Am J Hum Genet , vol.70 , pp. 955-964
    • Eichers, E.R.1    Green, J.S.2    Stockton, D.W.3
  • 5
    • 0034955572 scopus 로고    scopus 로고
    • Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1
    • Katsanis N., Shroyer N.F., Lewis R.A., et al. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet. 59:2001;424-429
    • (2001) Clin Genet , vol.59 , pp. 424-429
    • Katsanis, N.1    Shroyer, N.F.2    Lewis, R.A.3
  • 6
    • 0038024664 scopus 로고    scopus 로고
    • Mapping the ligand binding pocket in the cellular retinaldehyde binding protein
    • Wu Z., Yang Y., Shaw N., et al. Mapping the ligand binding pocket in the cellular retinaldehyde binding protein. J Biol Chem. 278:2003;12390-12396
    • (2003) J Biol Chem , vol.278 , pp. 12390-12396
    • Wu, Z.1    Yang, Y.2    Shaw, N.3
  • 7
    • 0346724556 scopus 로고    scopus 로고
    • Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: Evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes
    • Fishman G.A., Roberts M.F., Derlacki D.J., et al. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. Arch Ophthalmol. 122:2004;70-75
    • (2004) Arch Ophthalmol , vol.122 , pp. 70-75
    • Fishman, G.A.1    Roberts, M.F.2    Derlacki, D.J.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.