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Volumn 89, Issue 6, 2005, Pages 771-773

Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy [3]

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMYLOIDOSIS; CASE REPORT; CORNEA DYSTROPHY; CORNEA LATTICE DYSTROPHY; DESCEMET MEMBRANE; DNA PURIFICATION; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LETTER; MALE; MOLECULAR GENETICS; PENETRATING KERATOPLASTY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SLIT LAMP; TRANSMISSION ELECTRON MICROSCOPY; VISUAL IMPAIRMENT;

EID: 20344396376     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2004.056168     Document Type: Letter
Times cited : (9)

References (12)
  • 1
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    • A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
    • Yamamoto S, Okada M, Tsujikawa M, et al. A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet 1998;62:719-22.
    • (1998) Am J Hum Genet , vol.62 , pp. 719-722
    • Yamamoto, S.1    Okada, M.2    Tsujikawa, M.3
  • 2
    • 0031682083 scopus 로고    scopus 로고
    • A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities
    • Fujiki K, Hotta Y, Nakayasu K, et al. A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum Genet 1998;103:286-9.
    • (1998) Hum Genet , vol.103 , pp. 286-289
    • Fujiki, K.1    Hotta, Y.2    Nakayasu, K.3
  • 3
    • 0033804222 scopus 로고    scopus 로고
    • Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan
    • Mashima Y, Yamamoto S, Inoue Y, et al. Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. Am J Ophthalmol 2000;130:516-17.
    • (2000) Am J Ophthalmol , vol.130 , pp. 516-517
    • Mashima, Y.1    Yamamoto, S.2    Inoue, Y.3
  • 4
    • 0033983763 scopus 로고    scopus 로고
    • A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA
    • Dighiero P, Drunat S, Ellies P, et al. A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA. Am J Ophthalmol 2000;129:248-51.
    • (2000) Am J Ophthalmol , vol.129 , pp. 248-251
    • Dighiero, P.1    Drunat, S.2    Ellies, P.3
  • 6
    • 0031020733 scopus 로고    scopus 로고
    • Keratoepithelin mutations in four 5q31-linked corneal dystrophies
    • Munier FL, Korvatska E, Djemai A, et al. Keratoepithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997;15:247-51.
    • (1997) Nat Genet , vol.15 , pp. 247-251
    • Munier, F.L.1    Korvatska, E.2    Djemai, A.3
  • 7
    • 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, et al. 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
  • 8
    • 0031726475 scopus 로고    scopus 로고
    • Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients
    • Mashima Y, Konishi M, Nakamura Y, et al. Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients. Br J Ophthalmol 1998;82:1280-4.
    • (1998) Br J Ophthalmol , vol.82 , pp. 1280-1284
    • Mashima, Y.1    Konishi, M.2    Nakamura, Y.3
  • 9
    • 18244411823 scopus 로고    scopus 로고
    • Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene
    • Okada M, Yamamoto S, Watanabe H, et al. Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. Am J Ophthalmol 1998;126:169-76.
    • (1998) Am J Ophthalmol , vol.126 , pp. 169-176
    • Okada, M.1    Yamamoto, S.2    Watanabe, H.3
  • 10
    • 0031682946 scopus 로고    scopus 로고
    • Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations
    • Okada M, Yamamoto S, Inoue Y, et al. Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations. Invest Ophthalmol Vis Sci 1998;39:1947-53.
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 1947-1953
    • Okada, M.1    Yamamoto, S.2    Inoue, Y.3
  • 11
    • 85047679031 scopus 로고    scopus 로고
    • Homozygotic patient with betaig-h3 gene mutation in granular dystrophy
    • Fujiki K, Hotta Y, Nakayasu K, et al. Homozygotic patient with betaig-h3 gene mutation in granular dystrophy. Cornea 1998;17:288-92.
    • (1998) Cornea , vol.17 , pp. 288-292
    • Fujiki, K.1    Hotta, Y.2    Nakayasu, K.3
  • 12
    • 0034905387 scopus 로고    scopus 로고
    • Different recurrence patterns after phototherapeutic keratectomy in the corneal dystrophy resulting from homozygous and heterozygous R124H BIG-H3 mutation
    • Inoue T, Watanabe H, Yamamoto S, et al. Different recurrence patterns after phototherapeutic keratectomy in the corneal dystrophy resulting from homozygous and heterozygous R124H BIG-H3 mutation. Am J Ophthalmol 2001;132:255-7.
    • (2001) Am J Ophthalmol , vol.132 , pp. 255-257
    • Inoue, T.1    Watanabe, H.2    Yamamoto, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.