Clinical utility gene card for: Choroideremia

被引:33
作者
Moosajee, Mariya L. [1 ,2 ]
Ramsden, Simon C. [3 ]
Black, Graeme C. M. [3 ]
Seabra, Miguel C. [4 ,5 ]
Webster, Andrew R. [1 ,2 ]
机构
[1] UCL, Inst Ophthalmol, London EC1V 9EL, England
[2] Moorfields Eye Hosp, NHS Fdn Trust, London, England
[3] Cent Manchester Univ Hosp NHS Fdn Trust, Manchester, Lancs, England
[4] Univ London Imperial Coll Sci Technol & Med, Dept Mol Med, London, England
[5] Univ Nova Lisboa, CEDOC, Fac Ciencia Med, P-1200 Lisbon, Portugal
关键词
RAB ESCORT PROTEIN-1; MUTATIONS; VARIABILITY; CLONING; REP1; CHM;
D O I
10.1038/ejhg.2013.183
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
[No abstract available]
引用
收藏
页码:e1 / e4
页数:4
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