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British Journal of Ophthalmology
Volumn 97, Issue 3, 2013, Pages 262-265
Clinical characterisation of the CABP4-related retinal phenotype
Author keywords

[No Author keywords available]
Indexed keywords

ACCOMMODATION PARALYSIS; ADULT; ARTICLE; CALCIUM BINDING PROTEIN 4 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL NYSTAGMUS; ELECTRORETINOGRAPHY; EYE REFRACTION; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MALE; MUTATOR GENE; NIGHT BLINDNESS; PHENOTYPE; PHOTOPHOBIA; PRIORITY JOURNAL; RETINA DISEASE; RETROSPECTIVE STUDY;
EID: 84874666704     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2012-302186     Document Type: Article
Times cited : (28)
References (8)
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  • 3
    • 33749005104 scopus 로고    scopus 로고
    • Mutations in cabp4, the gene encoding the ca2+-binding protein 4, cause autosomal recessive night blindness
    • Zeitz C, Kloeckener-Gruissem B, Forster U, et al. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet 2006;79:657-67.
    • (2006) Am J Hum Genet , vol.79 , pp. 657-67
    • Zeitz, C.1    Kloeckener-Gruissem, B.2    Forster, U.3
  • 4
    • 65549105124 scopus 로고    scopus 로고
    • A novel homozygous nonsense mutation in cabp4 causes congenital cone-rod synaptic disorder
    • Littink KW, van Genderen MM, Collin RW, et al. A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. Invest Ophthalmol Vis Sci 2009;50:2344-50.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 2344-50
    • Littink, K.W.1    Van Genderen, M.M.2    Collin, R.W.3
  • 5
    • 77949314192 scopus 로고    scopus 로고
    • A null mutation in cabp4 causes leber's congenital amaurosis-like phenotype
    • Aldahmesh MA, Al-Owain M, Alqahtani F, et al. A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. Mol Vis 2010;16:207-12.
    • (2010) Mol Vis , vol.16 , pp. 207-12
    • Aldahmesh, M.A.1    Al-Owain, M.2    Alqahtani, F.3
  • 6
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    • Molecular characterization of retinitis pigmentosa in saudi arabia
    • Aldahmesh MA, Safieh LA, Alkuraya H, et al. Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis 2009;15:2464-9.
    • (2009) Mol Vis , vol.15 , pp. 2464-9
    • Aldahmesh, M.A.1    Safieh, L.A.2    Alkuraya, H.3
  • 7
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    • Iscev standard for full-field clinical electroretinography ( 2008 update)
    • Marmor MF, Fulton AB, Holder GE, et al. ISCEV standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 2009;118:69-77.
    • (2009) Doc Ophthalmol , vol.118 , pp. 69-77
    • Marmor, M.F.1    Fulton, A.B.2    Holder, G.E.3
  • 8
    • 0041104621 scopus 로고    scopus 로고
    • Loss-of-function mutations in a calcium-channel alpha1-subunit gene in xp11.23 cause incomplete x-linked congenital stationary night blindness
    • Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet 1998;19:264-7.
    • (1998) Nat Genet , vol.19 , pp. 264-7
    • Bech-Hansen, N.T.1    Naylor, M.J.2    Maybaum, T.A.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.