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Volumn 117, Issue 9, 2004, Pages 1418-1421

Analysis of human transforming growth factor β-induced gene mutation in corneal dystrophy

Author keywords

BIGH3 gene; Corneal dystrophy; Gene mutation analysis

Indexed keywords

ARGININE; GENOMIC DNA; HISTIDINE; TRANSFORMING GROWTH FACTOR BETA; TRYPTOPHAN;

EID: 4844229785     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (12)
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  • 3
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  • 4
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    • Korvatska E, Munier F, Djemai A, et al. Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet 1998; 62:320-324.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 320-324
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  • 5
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    • A novel mutation at Codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy
    • Mashima Y, Nakamura Y, Noda K, et al. A novel mutation at Codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Arch Ophthalmol 1999;117:90-93.
    • (1999) Arch. Ophthalmol. , vol.117 , pp. 90-93
    • Mashima, Y.1    Nakamura, Y.2    Noda, K.3
  • 6
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    • Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes
    • Afshari NA, Mullally JE, Afshari MA, et al. Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes. Arch Ophthalmol 2001;119:16-22.
    • (2001) Arch. Ophthalmol. , vol.119 , pp. 16-22
    • Afshari, N.A.1    Mullally, J.E.2    Afshari, M.A.3
  • 7
    • 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 Ophthamol 1998;126:169-175.
    • (1998) Am. J. Ophthamol. , vol.126 , pp. 169-175
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  • 8
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    • Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy
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    • (1998) Am. J. Ophthalmo. , vol.126 , pp. 535-541
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  • 9
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    • BIGH3 gene analysis in the differential diagnosis of corneal dystrophies
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  • 10
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  • 11
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  • 12
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.