Publication
Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
Mark T. Handley, Deborah J. Morris-Rosendahl, Stephen Brown, Fiona Macdonald, Carol Hardy, Danai Bem, Sarah M. Carpanini, Guntram Borck, Loreto Martorell, Claudia Izzi, Francesca Faravelli, Patrizia Accorsi, Lorenzo Pinelli, Lina Basel-Vanagaite, Gabriela Peretz, Ghada M.H. Abdel-Salam, Maha S. Zaki, Anna Jansen, David Mowat, Ian Glass, Helen Stewart, Grazia Mancini, Damien Lederer, Tony Roscioli, Fabienne Giuliano, Astrid S. Plomp, Arndt Rolfs, John M. Graham, Eva Seemanova, Pilar Poo, Àngels García-Cazorla, Patrick Edery, Ian J. Jackson, Eamonn R. Maher, Irene A. Aligianis
Human Mutation, April 2013, Wiley
DOI: 10.1002/humu.22296