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Volumn 23, Issue 1, 2005, Pages 60-62

Arg555Trp mutation of BIGH3 gene inducing granular corneal dystrophy Groenouw type I

Author keywords

BIGH3; Gene mutation; Polymerase chain reaction (PCR); Single strand conformational polymorphism (SSCP)

Indexed keywords

ARGININE; TRANSFORMING GROWTH FACTOR BETA; TRYPTOPHAN;

EID: 14644388110     PISSN: 10030808     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (1)

References (9)
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    • Clinical outcome of eight BIGH3-linked corneal dystrophies
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  • 5
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    • The phenotype of arg555trp mutation in a large Turkish family with corneal granular dystrophy
    • Kiratli H, Irkec M, Ozgul A, et al. The phenotype of arg555trp mutation in a large Turkish family with corneal granular dystrophy [J]. Eur J Ophthalmol, 2001, 11 (4): 333-337
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  • 6
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    • Hou YC, Hu FR, Chen MS. An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene[J]. J Formos Med Assoc, 2003, 102 (2): 117-120
    • (2003) J Formos Med Assoc , vol.102 , Issue.2 , pp. 117-120
    • Hou, Y.C.1    Hu, F.R.2    Chen, M.S.3
  • 7
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    • cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta
    • Skonier J, Neubauer M, Madisen L, et al. cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta[J]. DNA Cell Biol, 1992, 11 (7): 511-522
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    • Korvatska E, Munier FL, Djemaï A, et al. Mutation hot spots in 5q31-linked corneal dystrophies[J]. Am J Hum Genet, 1998, 62: 320-324
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    • Korvatska, E.1    Munier, F.L.2    Djemaï, A.3
  • 9
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    • BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.