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TITLE: Identification of novel L2HGDH gene mutations and update of the pathological spectrum  Full Text
AUTHORS: Laura Vilarinho; Sandra Tafulo; Michelina Sibilio; Fernando Kok; Federica Fontana; Luisa Diogo; Margarida Venancio; Mariana Ferreira; Celia Nogueira; Carla Valongo; Giancarlo Parenti; Amorim, Antonio ; Luisa Azevedo ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 6