RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.
作者信息
Zito I, Downes S M, Patel R J, Cheetham M E, Ebenezer N D, Jenkins S A, Bhattacharya S S, Webster A R, Holder G E, Bird A C, Bamiou D E, Hardcastle A J
出版信息
J Med Genet. 2003 Aug;40(8):609-15. doi: 10.1136/jmg.40.8.609.