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Volumn 15, Issue , 2009, Pages 810-814

A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus

Author keywords

[No Author keywords available]

Indexed keywords

G PROTEIN COUPLED RECEPTOR; G PROTEIN COUPLED RECEPTOR 143; GENOMIC DNA; UNCLASSIFIED DRUG;

EID: 65349106540     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (14)

References (20)
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    • Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation
    • Liu JY, Ren X, Yang X, Guo T, Yao Q, Li L, Dai X, Zhang M, Wang L, Liu M, Wang QK. Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. J Hum Genet 2007; 52:565-70.
    • (2007) J Hum Genet , vol.52 , pp. 565-570
    • Liu, J.Y.1    Ren, X.2    Yang, X.3    Guo, T.4    Yao, Q.5    Li, L.6    Dai, X.7    Zhang, M.8    Wang, L.9    Liu, M.10    Wang, Q.K.11
  • 6
    • 33750466907 scopus 로고    scopus 로고
    • Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet 2006; 38:1242-4.
    • Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet 2006; 38:1242-4.
  • 8
    • 44949200315 scopus 로고    scopus 로고
    • Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus
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    • (2008) Mol Vis , vol.14 , pp. 1015-1019
    • Zhou, P.1    Wang, Z.2    Zhang, J.3    Hu, L.4    Kong, X.5
  • 11
    • 2442713975 scopus 로고    scopus 로고
    • Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay
    • Faugère V, Tuffery-Giraud S, Hamel C, Claustres M. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. BMC Genet 2003; 4:1.
    • (2003) BMC Genet , vol.4 , pp. 1
    • Faugère, V.1    Tuffery-Giraud, S.2    Hamel, C.3    Claustres, M.4
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    • Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics
    • Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 2004; 5:89-99.
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    • Maquat, L.E.1
  • 14
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    • Deletion in the OA1 gene in a family with congenital X linked nystagmus
    • Preising M, Op de Laak JP, Lorenz B. Deletion in the OA1 gene in a family with congenital X linked nystagmus. Br J Ophthalmol 2001; 85:1098-103.
    • (2001) Br J Ophthalmol , vol.85 , pp. 1098-1103
    • Preising, M.1    Op de Laak, J.P.2    Lorenz, B.3
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    • Sankaranarayanan K, Wassom JS. Ionizing radiation and genetic risks XIV. Potential research directions in the post-genome era based on knowledge of repair of radiation-induced DNA double-strand breaks in mammalian somatic cells and the origin of deletions associated with human genomic disorders. Mutat Res 2005; 578:333-70.
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    • Sankaranarayanan, K.1    Wassom, J.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.