Encontrado 1 documento, a visualizar página 1 de 1

Splicing mutations: making sense with antisense therapy

Tese de mestrado. Biologia (Biologia Molecular e Genética). Universidade de Lisboa, Faculdade de Ciências, 2012 ; Galactose-1-phosphate uridylyltransferase (GALT) transfers a UMP group from UDP-glucose to Gal1P in the second step of the Leloir pathway for galactose metabolism. Pathogenic mutations in the GALT gene cause deficient or absent activity of the enzyme and result in Classical Galactosemia. Mutational...