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Identification of novel L2HGDH gene mutations and update of the pathological spectrum
Vilarinho, Laura, Tafulo, Sandra, Sibilio, Michelina, Kok, Fernando, Fontana, Federica, Diogo, Luisa, Venâncio, Margarida, Ferreira, Mariana, Nogueira, Celia, Valongo, Carla, Parenti, Giancarlo, AmoriVolume:
55
Language:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2009.110
Date:
January, 2010
File:
PDF, 426 KB
english, 2010