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Volumn 13, Issue , 2007, Pages 1375-1378

FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; GENE PRODUCT; GENOMIC DNA; GLYCINE; LYSINE; PROTEIN FRMD7; TRYPTOPHAN; UNCLASSIFIED DRUG;

EID: 34547855187     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (36)

References (18)
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    • Confirmation and refinement of a genetic locus of congenital motor nystagmus. in Xq26.3-q27.1 in a Chinese family
    • Zhang B, Xia K, Ding M, Liang D, Liu Z, Pan Q, Hu Z, Wu LQ, Cai F, Xia J. Confirmation and refinement of a genetic locus of congenital motor nystagmus. in Xq26.3-q27.1 in a Chinese family. Hum Genet 2005; 116:128-31.
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    • Zhang, B.1    Xia, K.2    Ding, M.3    Liang, D.4    Liu, Z.5    Pan, Q.6    Hu, Z.7    Wu, L.Q.8    Cai, F.9    Xia, J.10
  • 5
    • 31544452824 scopus 로고    scopus 로고
    • Linkage analysis of two families with X-linked recessive congenital motor nystagmus
    • Guo X, Li S, Jia X, Xiao X, Wang P,Zhang Q. Linkage analysis of two families with X-linked recessive congenital motor nystagmus. J Hum Genet 2006; 51:76-80.
    • (2006) J Hum Genet , vol.51 , pp. 76-80
    • Guo, X.1    Li, S.2    Jia, X.3    Xiao, X.4    Wang, P.5    Zhang, Q.6
  • 7
    • 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
    • 33847738565 scopus 로고    scopus 로고
    • The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals
    • Zhang Q, Li S, Xiao X, Jia X, Guo X. The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. Invest Ophthalmol Vis Sci 2007; 48:530-3.
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 530-533
    • Zhang, Q.1    Li, S.2    Xiao, X.3    Jia, X.4    Guo, X.5
  • 9
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    • den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15:7-12. Erratum in: Hum Mutat 2002; 20:403.
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    • 0026878962 scopus 로고
    • A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
    • Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1992; 1:209-13.
    • (1992) Nat Genet , vol.1 , pp. 209-213
    • Rosenfeld, P.J.1    Cowley, G.S.2    McGee, T.L.3    Sandberg, M.A.4    Berson, E.L.5    Dryja, T.P.6
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    • Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5
    • Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Hum Genet 2004; 75:878-84.
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    • Jiao, X.1    Ventruto, V.2    Trese, M.T.3    Shastry, B.S.4    Hejtmancik, J.F.5
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    • den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K,,Cremers FP. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 2006; 79:556-61.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.