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Volumn 17, Issue 6, 2007, Pages 1000-1003

Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene

Author keywords

Adult onset vitelliform macular dystrophy; Intrafamilial variability; Peripherin RDS gene; Retinitis pigmentosa

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; ELECTRORETINOGRAPHY; EXON; EYE EXAMINATION; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; NIGHT BLINDNESS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; VISUAL ACUITY; VISUAL FIELD;

EID: 39349095474     PISSN: 11206721     EISSN: None     Source Type: Journal    
DOI: 10.1177/112067210701700624     Document Type: Article
Times cited : (14)

References (5)
  • 2
    • 24944547546 scopus 로고    scopus 로고
    • Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene
    • Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Ophthalmology 2005; 12: 1592-8.
    • (2005) Ophthalmology , vol.12 , pp. 1592-1598
    • Michaelides, M.1    Holder, G.E.2    Bradshaw, K.3    Hunt, D.M.4    Moore, A.T.5
  • 3
    • 33846239253 scopus 로고    scopus 로고
    • Intrafamilial phenotypic variability in families with RDS mutations: Exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa
    • Leroy BP, Kailasanathan A, De Laey JJ, Black GCM, Manson FDC. Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa. Br J Ophthalmol 2007; 91: 89-93.
    • (2007) Br J Ophthalmol , vol.91 , pp. 89-93
    • Leroy, B.P.1    Kailasanathan, A.2    De Laey, J.J.3    Black, G.C.M.4    Manson, F.D.C.5
  • 4
    • 0026499299 scopus 로고
    • Autosomal dominant retinitis pigmentosa: A novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree
    • Farrar GJ, Kenna P, Jordan SA, et al. Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. Genomics 1992; 14: 805-7.
    • (1992) Genomics , vol.14 , pp. 805-807
    • Farrar, G.J.1    Kenna, P.2    Jordan, S.A.3
  • 5
    • 0030930234 scopus 로고    scopus 로고
    • Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene
    • Felbor U, Schilling H, Weber BHF. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat 1997; 10: 301-9.
    • (1997) Hum Mutat , vol.10 , pp. 301-309
    • Felbor, U.1    Schilling, H.2    Weber, B.H.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.