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Volumn 50, Issue 5, 2006, Pages 426-431

Clinical and molecular findings in three Japanese patients with crystalline retinopathy

Author keywords

Bietti crystalline corneoretinal dystrophy; CYP4V2; Gene mutation

Indexed keywords

CYTOCHROME P450; CYTOCHROME P450 CYP4V2; UNCLASSIFIED DRUG;

EID: 33749324466     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-006-0350-0     Document Type: Article
Times cited : (35)

References (9)
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  • 2
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    • Genetic linkage of Bietti crystalline corneoretinal dystrophy to chromosome 4q35
    • X Jiao FL Munier F Iwata 2000 Genetic linkage of Bietti crystalline corneoretinal dystrophy to chromosome 4q35 Am J Hum Genet 67 1309 1313
    • (2000) Am J Hum Genet , vol.67 , pp. 1309-1313
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  • 3
    • 2342537802 scopus 로고    scopus 로고
    • Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
    • A Li X Jiao FL Munier 2004 Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2 Am J Hum Genet 74 817 826
    • (2004) Am J Hum Genet , vol.74 , pp. 817-826
    • Li, A.1    Jiao, X.2    Munier, F.L.3
  • 4
    • 1942477632 scopus 로고    scopus 로고
    • Clinical and functional findings in crystalline retinopathy
    • Y Yanagi Y Tamaki H Takahashi 2004 Clinical and functional findings in crystalline retinopathy Retina 24 267 274
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    • Yanagi, Y.1    Tamaki, Y.2    Takahashi, H.3
  • 5
    • 18144381887 scopus 로고    scopus 로고
    • Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy
    • Y Wada T Itabashi H Sato 2005 Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy Am J Ophthalmol 139 894 899
    • (2005) Am J Ophthalmol , vol.139 , pp. 894-899
    • Wada, Y.1    Itabashi, T.2    Sato, H.3
  • 6
    • 26244466736 scopus 로고    scopus 로고
    • Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy
    • J Lin KM Nishiguchi M Nakamura 2005 Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy J Med Genet 42 e38
    • (2005) J Med Genet , vol.42 , pp. 38
    • Lin, J.1    Nishiguchi, K.M.2    Nakamura, M.3
  • 7
    • 32944468810 scopus 로고    scopus 로고
    • Characterization of Bietti's crystalline dystrophy patients with CYP4V2 mutations
    • KYC Lee AHC Koh T Aung 2005 Characterization of Bietti's crystalline dystrophy patients with CYP4V2 mutations Invest Ophthalmol Vis Sci 46 1841 1846
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 1841-1846
    • Lee, K.Y.C.1    Koh, A.H.C.2    Aung, T.3
  • 8
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    • CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy
    • T Gekka T Hayashi T Takeuchi 2005 CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy Ophthalmic Res 37 262 269
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  • 9
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    • Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy
    • M Shan B Dong X Zhao 2005 Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy Mol Vis 11 738 743
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    • Shan, M.1    Dong, B.2    Zhao, X.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.