A novel mutation in the Connexin 46 Gene causes
autosomal dominant congenital cataract with incomplete penetrance
A novel mutation in the Connexin 46 Gene causes
autosomal dominant congenital cataract with incomplete penetrance
dc.contributor.author | Craig, Jamie E | |
dc.contributor.author | Sale, Michele M | |
dc.contributor.author | Mackey, David A | |
dc.contributor.author | Russell-Eggit, Isabelle M | |
dc.contributor.author | Wirth, M Gabriela | |
dc.contributor.author | Dickinson, Joanne L | |
dc.contributor.author | Elder, James E | |
dc.contributor.author | Burdon, Kathryn Penelope | |
dc.date.accessioned | 2010-07-27T05:52:53Z | |
dc.date.available | 2010-07-27T05:52:53Z | |
dc.date.issued | 2004 | en_US |
dc.description.note | BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON, ENGLAND, WC1H 9JR | en |
dc.identifier.citation | Burdon, K.P., Wirth, M., Mackey, D.A., Russell-Eggit, I M, Craig, J., Elder, J.E., Dickinson, J.L., & Sale, M.M., 2004. A novel mutation in the Connexin 46 Gene causes autosomal dominant congenital cataract with incomplete penetrance. Journal of Medical Genetics, 41(8). | en |
dc.identifier.doi | https://doi.org/10.1136/jmg.2004.018333 | en |
dc.identifier.issn | 0022-2593 | en_US |
dc.identifier.rmid | 2004054737 | en_US |
dc.identifier.uri | http://hdl.handle.net/2328/9260 | |
dc.subject.forgroup | 0604 Genetics | en_US |
dc.subject.forgroup | 1103 Clinical Sciences | en_US |
dc.title | A novel mutation in the Connexin 46 Gene causes autosomal dominant congenital cataract with incomplete penetrance | en_US |
dc.type | Article | en_US |