Mutations in a novel member of the FERM family, FRMD7 cause X-linked idiopathic congenital nystagmus (NYS1)

Idiopathic congenital nystagmus (ICN) is characterised by involuntary, periodic, predominantly horizontal, oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 ICN singleton cases (28 male, 14 females) yielded th...

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Hauptverfasser: 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, Woodruff, G, Gale, R, Degg, C, Droutsas, K, Asproudis, I, Zubcov, AA, Pieh, C, Veal, CD, Machado, RD, Backhouse, OC, Baumber, L, Jain, S, 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2006
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2592600/
https://ncbi.nlm.nih.gov/pubmed/17013395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng1893
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