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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 Bastawrous A 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 《Nature genetics》2006,38(11):1242-1244
Idiopathic congenital nystagmus is characterized 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 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability. 相似文献
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