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Volumn 12, Issue , 2006, Pages 142-146

Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; TRANSFORMING GROWTH FACTOR BETA1;

EID: 33644552779     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (31)

References (16)
  • 1
    • 0034972072 scopus 로고    scopus 로고
    • Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene
    • Hirano K, Hotta Y, Nakamura M, Fujiki K, Kanai A, Yamamoto N. Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene. Cornea 2001; 20:525-9.
    • (2001) Cornea , vol.20 , pp. 525-529
    • Hirano, K.1    Hotta, Y.2    Nakamura, M.3    Fujiki, K.4    Kanai, A.5    Yamamoto, N.6
  • 3
    • 0033498186 scopus 로고    scopus 로고
    • A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy
    • Stewart H, Black GC, Donnai D, Bonshek RE, McCarthy J, Morgan S, Dixon MJ, Ridgway AA. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Ophthalmology 1999; 106:964-70.
    • (1999) Ophthalmology , vol.106 , pp. 964-970
    • Stewart, H.1    Black, G.C.2    Donnai, D.3    Bonshek, R.E.4    McCarthy, J.5    Morgan, S.6    Dixon, M.J.7    Ridgway, A.A.8
  • 4
    • 2942537993 scopus 로고    scopus 로고
    • Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions
    • Aldave AJ, Lin DY, Principe AH, Yellore VS, Weissman BA. Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions. Am J Ophthalmol 2004; 137:1124-7.
    • (2004) Am J Ophthalmol , vol.137 , pp. 1124-1127
    • Aldave, A.J.1    Lin, D.Y.2    Principe, A.H.3    Yellore, V.S.4    Weissman, B.A.5
  • 5
    • 11144241602 scopus 로고    scopus 로고
    • Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis
    • Aldave AJ, Principe AH, Lin DY, Yellore VS, Small KW. Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis. Cornea 2005; 24:112-5.
    • (2005) Cornea , vol.24 , pp. 112-115
    • Aldave, A.J.1    Principe, A.H.2    Lin, D.Y.3    Yellore, V.S.4    Small, K.W.5
  • 7
    • 0347581233 scopus 로고    scopus 로고
    • The molecular genetics of the corneal dystrophies - Current status
    • Klintworth GK. The molecular genetics of the corneal dystrophies - current status. Front Biosci 2003; 8:d687-713.
    • (2003) Front Biosci , vol.8
    • Klintworth, G.K.1
  • 8
    • 0142226907 scopus 로고    scopus 로고
    • A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I
    • Warren JF, Abbott RL, Yoon MK, Crawford JB, Spencer WH, Margolis TP. A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. Am J Ophthalmol 2003; 136:872-8.
    • (2003) Am J Ophthalmol , vol.136 , pp. 872-878
    • Warren, J.F.1    Abbott, R.L.2    Yoon, M.K.3    Crawford, J.B.4    Spencer, W.H.5    Margolis, T.P.6
  • 9
    • 0034048172 scopus 로고    scopus 로고
    • A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126
    • Dighiero P, Drunat S, D'Hermies F, Renard G, Delpech M, Valleix S. A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126. Arch Ophthalmol 2000; 118:814-8.
    • (2000) Arch Ophthalmol , vol.118 , pp. 814-818
    • Dighiero, P.1    Drunat, S.2    D'Hermies, F.3    Renard, G.4    Delpech, M.5    Valleix, S.6
  • 11
    • 20144385538 scopus 로고    scopus 로고
    • A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene
    • Aldave AJ, Rayner SA, King JA, Affeldt JA, Yellore VS. A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene. Ophthalmology 2005; 112:1017-22.
    • (2005) Ophthalmology , vol.112 , pp. 1017-1022
    • Aldave, A.J.1    Rayner, S.A.2    King, J.A.3    Affeldt, J.A.4    Yellore, V.S.5
  • 12
    • 0033054189 scopus 로고    scopus 로고
    • Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene
    • Konishi M, Yamada M, Nakamura Y, Mashima Y. Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene. Cornea 1999; 18:424-9.
    • (1999) Cornea , vol.18 , pp. 424-429
    • Konishi, M.1    Yamada, M.2    Nakamura, Y.3    Mashima, Y.4
  • 14
    • 0035543250 scopus 로고    scopus 로고
    • R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1
    • Hellenbroich Y, Tzivras G, Neppert B, Schwinger E, Zuhlke C. R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1. Ophthalmologica 2001; 215:444-7.
    • (2001) Ophthalmologica , vol.215 , pp. 444-447
    • Hellenbroich, Y.1    Tzivras, G.2    Neppert, B.3    Schwinger, E.4    Zuhlke, C.5
  • 15


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.