Clinical utility gene card for: choroideremia

Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.183. Epub 2013 Aug 21.

Authors

Mariya Moosajee¹, Simon C Ramsden², Graeme C M Black², Miguel C Seabra³, Andrew R Webster¹

Affiliations

¹ 1] Institute of Ophthalmology, UCL, London, UK [2] Moorfields Eye Hospital NHS Foundation Trust, London, UK.
² Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
³ 1] Department of Molecular Medicine, Imperial College London, London, UK [2] CEDOC, Faculdade de Ciência Médicas, Universidade Nova de Lisboa, Lisbon, Portugal [3] Instituto Gulbenkian de Ciência, Oeiras, Portugal.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adaptor Proteins, Signal Transducing / genetics
Choroideremia / diagnosis*
Choroideremia / genetics*
Genetic Testing
Genotype
Humans
Phenotype

Substances

Adaptor Proteins, Signal Transducing
CHM protein, human