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Volumn 43, Issue 28, 2003, Pages 3087-3093

Analysis of three genes in Leber congenital amaurosis in Indonesian patients

Author keywords

AIPL1; Genotype phenotype; Leber congenital amaurosis LCA; Mutation; RetGC1; RPE65

Indexed keywords

GENE PRODUCT; GUANYLATE CYCLASE; VISUAL PIGMENT;

EID: 0242662615     PISSN: 00426989     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.visres.2003.08.008     Document Type: Article
Times cited : (19)

References (31)
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    • Identification of a novel polymorphism (IVS6-33C- > G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene
    • Marcos I., Ruiz A., Borrego S., Antinolo G. Identification of a novel polymorphism (IVS6-33C-. > G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene Human Mutations. 17(4):2001;353.
    • (2001) Human Mutations , vol.17 , Issue.4 , pp. 353
    • Marcos, I.1    Ruiz, A.2    Borrego, S.3    Antinolo, G.4
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    • The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina
    • van der Spuy J., Chapple J.P., Clark B.J., Luthert P.J., Sethi C.S., Cheetham M.E. The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina. Human Molecular Genetics. 11(7):2002;823-831.
    • (2002) Human Molecular Genetics , vol.11 , Issue.7 , pp. 823-831
    • Van Der Spuy, J.1    Chapple, J.P.2    Clark, B.J.3    Luthert, P.J.4    Sethi, C.S.5    Cheetham, M.E.6
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.