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Clinical utility gene card for: Choroideremia
被引:32
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]
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页码:e1 / e4
页数:4
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