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Japanese Journal of Ophthalmology
Volumn 54, Issue 6, 2010, Pages 628-629
Case of lattice corneal dystrophy due to L527R mutation in the TGFBI gene with asymmetric corneal opacity in eye laterality
Author keywords

L527R mutation; lattice corneal dystrophy; TGFBI gene
Indexed keywords

ARGININE; LEUCINE; TRANSFORMING GROWTH FACTOR BETA1;
EID: 78751627037     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-010-0882-1     Document Type: Note
Times cited : (3)
References (5)
  • 1
    • 0031682083 scopus 로고    scopus 로고
    • A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities
    • DOI 10.1007/s004390050818
    • K. Fujiki Y. Hotta K. Nakayasu, et al. 1998 A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities Hum Genet 103 286 289 1:CAS:528:DyaK1cXmtFegurw%3D 10.1007/s004390050818 9799082 (Pubitemid 28470078)
    • (1998) Human Genetics , vol.103 , Issue.3 , pp. 286-289
    • Fujiki, K.1    Hotta, Y.2    Nakayasu, K.3    Yokoyama, T.4    Takano, T.5    Yamaguchi, T.6    Kanai, A.7
  • 2
    • 17244380701 scopus 로고    scopus 로고
    • Six cases of late-onset lattice corneal dystrophy associated with the transforming growth factor beta induced gene mutations [in Japanese]
    • 15770959
    • M. Kawashima M. Yamada T. Funayama Y. Mashima 2005 Six cases of late-onset lattice corneal dystrophy associated with the transforming growth factor beta induced gene mutations [in Japanese] Nippon Ganka Gakkai Zasshi 109 93 100 15770959
    • (2005) Nippon Ganka Gakkai Zasshi , vol.109 , pp. 93-100
    • Kawashima, M.1    Yamada, M.2    Funayama, T.3    Mashima, Y.4
  • 3
    • 41449090612 scopus 로고    scopus 로고
    • Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene
    • 1:CAS:528:DC%2BD1cXlt1Olsr4%3D 18385782
    • N.A. Afshari R.P. Bahadur D.E. Eifrig Jr, et al. 2008 Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene Mol Vis 14 495 499 1:CAS:528:DC%2BD1cXlt1Olsr4%3D 18385782
    • (2008) Mol Vis , vol.14 , pp. 495-499
    • Afshari, N.A.1    Bahadur, R.P.2    Eifrig Jr., D.E.3
  • 4
    • 32044467120 scopus 로고    scopus 로고
    • Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene [1]
    • DOI 10.1007/s10384-005-0260-6
    • T. Funayama Y. Mashima M. Kawashima, et al. 2006 Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene Jpn J Ophthalmol 50 62 64 10.1007/s10384-005-0260-6 16453189 (Pubitemid 43201035)
    • (2006) Japanese Journal of Ophthalmology , vol.50 , Issue.1 , pp. 62-64
    • Funayama, T.1    Mashima, Y.2    Kawashima, M.3    Yamada, M.4
  • 5
    • 77957357602 scopus 로고    scopus 로고
    • Lattice corneal dystrophy type IV (p.Leu527Arg) was caused by a founder mutation of the TGFBI gene in a single Japanese ancestor
    • 10.1167/iovs.10-5343 20357204
    • H. Fukuoka S. Kawasaki K. Yamasaki, et al. 2010 Lattice corneal dystrophy type IV (p.Leu527Arg) was caused by a founder mutation of the TGFBI gene in a single Japanese ancestor Invest Ophthalmol Vis Sci 51 4523 4530 10.1167/iovs.10-5343 20357204
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 4523-4530
    • Fukuoka, H.1    Kawasaki, S.2    Yamasaki, K.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.