Journal article

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Matthew Bower, Remi Salomon, Judith Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe B Jensen, Pierre Cochat, Stephane DeCramer, Joanne Dixon, Regen Drouin, Marni J Falk, Holly Feret, Robert Gise, Alasdair Hunter, Kisha Johnson, Rajiv Kumar, Marie Pierre Lavocat, Laura Martin Show all

Human Mutation | WILEY | Published : 2012


Awarded by European Community's Seventh Framework Programme

Awarded by GEN2PHEN

Funding Acknowledgements

The authors would like to thank the patients and families who have contributed to this work. In addition, the authors wish to thank the many professionals who are not formally recognized, but have made significant contributions to this work including the staff of the molecular diagnostics laboratory at the University of Minnesota Medical Center, Fairview. Construction of the LOVD database has received funding from the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754: The GEN2PHEN project.