Authors: DELUCCA M PEREZ B DESVIAT LR UGARTE M

Citation: M. Delucca et al., MOLECULAR-BASIS OF PHENYLKETONURIA IN VENEZUELA - PRESENCE OF 2 NOVELNULL MUTATIONS, Human mutation, 11(5), 1998, pp. 354-359

Authors: PEREZ B DESVIAT LR GAMEZ A DELUCCA M UGARTE M

Citation: B. Perez et al., EFFECT OF THE S349L PKU MUTATION ON THE FOLDING, STABILITY AND ACTIVITY OF THE PAH PROTEIN, European journal of human genetics, 6, 1998, pp. 4270-4270

Authors: PEREZ B DESVIAT LR DELUCCA M SCHMIDT B LOGHINGROSSO N GIUGLIANI R PIRES RF UGARTE M

Citation: B. Perez et al., MUTATION ANALYSIS OF PHENYLKETONURIA IN SOUTH BRAZIL, Human mutation, 8(3), 1996, pp. 262-264

Authors: PEREZ B DESVIAT LR DELUCCA M CORNEJO V UGARTE M

Citation: B. Perez et al., MUTATIONS AND POLYMORPHISMS IN THE PHENYLALANINE-HYDROXYLASE GENE IN CHILE, American journal of human genetics, 57(4), 1995, pp. 971-971

Authors: DESVIAT LR PEREZ B DELUCCA M CORNEJO V SCHMIDT B UGARTE M

Citation: Lr. Desviat et al., EVIDENCE IN LATIN-AMERICA OF RECURRENCE OF V388M, A PHENYLKETONURIA MUTATION WITH HIGH IN-VITRO RESIDUAL ACTIVITY, American journal of human genetics, 57(2), 1995, pp. 337-342

Authors: PEREZ B DESVIAT LR DELUCCA M UGARTE M

Citation: B. Perez et al., SPECTRUM AND ORIGIN OF PHENYLKETONURIA MUTATIONS IN SPAIN, Acta paediatrica, 83, 1994, pp. 34-36