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Volumn 88, Issue 5, 2010, Pages 607-609

Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene: Case Series

Author keywords

Bietti; crystalline corneoretinal dystrophy; CYP4V2 gene; exon skipping; lens; retinitis pigmentosa

Indexed keywords

PROTEIN; PROTEIN CYP4V2; UNCLASSIFIED DRUG;

EID: 77954633030     PISSN: 1755375X     EISSN: 17553768     Source Type: Journal    
DOI: 10.1111/j.1755-3768.2009.01529.x     Document Type: Article
Times cited : (19)

References (11)
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    • Clinical and molecular findings in three Japanese patients with crystalline retinopathy
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    • Genotype-phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations
    • Lai TYY, Ng TK, Tam POS et al. (2007 Genotype-phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations. Invest Ophthalmol Vis Sci 48 : 5212 5220.
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    • Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
    • Li A, Jiao X, Munier FL et al. (2004 Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet 74 : 817 826.
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    • Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy
    • Lin J, Nishiguchi KM, Nakamura N, Dryja TP, Berson EL Miyake Y (2005 Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. J Med Genet 42 : e38.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.