Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy
Martina Nemethova, Jan Radvanszky, Ludevit Kadasi, David B Ascher, Douglas EV Pires, Tom L Blundell, Berardino Porfirio, Alessandro Mannoni, Annalisa Santucci, Lia Milucci, Silvia Sestini, Gianfranco Biolcati, Fiammetta Sorge, Caterina Aurizi, Robert Aquaron, Mohammed Alsbou, Charles Marques Lourenco, Kanakasabapathi Ramadevi, Lakshminarayan R Ranganath, James A Gallagher Show all
European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2016
Awarded by European Commission Seventh Framework Programme
Awarded by ERDF (the project 'Creating a Competitive Centre for research and development in the field of molecular medicine')
Awarded by Slovak National Agency VEGA
Awarded by NHMRC CJ Martin Fellowship
DNA analysis of SONIA1 samples was supported by the European Commission Seventh Framework Programme funding granted in 2012 (DevelopAKUre, project number: 304985). Analysis of remaining patients was performed thanks to the Research & Developmental Operational Programme funded by the ERDF (the project 'Creating a Competitive Centre for research and development in the field of molecular medicine' ITMS 26240220071), and the Slovak National Agency VEGA (grant No. 2/0027/12). DBA is supported by a NHMRC CJ Martin Fellowship (GNT1072476). DEVP is supported by the Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq), Brazil.