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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

2005; Nature Portfolio; Volume: 37; Issue: 3 Linguagem: Inglês

10.1038/ng1517

1546-1718

Irene A. Aligianis, Colin A. Johnson, Paul Gissen, Dongrong Chen, Daniel J. Hampshire, Katrin Hoffmann, Esther N. Maina, Neil V. Morgan, Louise Tee, Jenny Morton, John R. Ainsworth, Denise Horn, Elisabeth Rosser, Trevor Cole, Irene Stolte‐Dijkstra, Karen Fieggen, Jill Clayton‐Smith, André Mégarbané, Julian Hamilton‐Shield, Ruth Newbury‐Ecob, William B. Dobyns, John M. Graham, Klaus Kjaer, Mette Warburg, Jacqueline Bond, Richard C. Trembath, Laura W. Harris, Yoshimi Takai, Stefan Mundlos, David Tannahill, Crislyn Woods, Eamonn R. Maher,

Retinal Development and Disorders