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Volumn 83, Issue 3, 2006, Pages 569-573

Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis

Author keywords

Leber congenital amarousis; mutation; photoreceptor; retinitis pigmentosa; tub; tulp

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; COMPUTER PROGRAM; DNA POLYMORPHISM; GENE; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; TUB GENE;

EID: 33745170000     PISSN: 00144835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exer.2006.02.003     Document Type: Article
Times cited : (4)

References (21)
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  • 4
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    • Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa
    • Hagstrom S.A., North M.A., Nishina P.M., Berson E.L., and Dryja T.P. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat. Genet. 18 (1998) 174-176
    • (1998) Nat. Genet. , vol.18 , pp. 174-176
    • Hagstrom, S.A.1    North, M.A.2    Nishina, P.M.3    Berson, E.L.4    Dryja, T.P.5
  • 5
    • 0032759729 scopus 로고    scopus 로고
    • Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix
    • Hagstrom S.A., Duyao M., North M.A., and Li T. Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix. Invest. Ophthalmol. Vis. Sci. 40 (1999) 2795-2802
    • (1999) Invest. Ophthalmol. Vis. Sci. , vol.40 , pp. 2795-2802
    • Hagstrom, S.A.1    Duyao, M.2    North, M.A.3    Li, T.4
  • 7
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    • GFP-tagged expression and immunohistochemical studies to determine the subcellular localization of the tubby gene family members
    • He W., Ikeda S., Bronson R.T., Yan G., Nishina P.M., North M.A., and Naggert J.K. GFP-tagged expression and immunohistochemical studies to determine the subcellular localization of the tubby gene family members. Brain Res. Mol. Brain Res. 81 (2000) 109-117
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  • 15
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    • Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans
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  • 17
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    • Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases
    • North M.A., Naggert J.K., Yan Y., Noben-Trauth K., and Nishina P.M. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proc. Natl Acad. Sci. USA 94 (1997) 3128-3133
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 3128-3133
    • North, M.A.1    Naggert, J.K.2    Yan, Y.3    Noben-Trauth, K.4    Nishina, P.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.