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:
RODRIGUEZPOMBO P
HOENICKA J
MURO S
PEREZ B
PEREZCERDA C
RICHARD E
DESVIAT LR
UGARTE M
Citation: P. Rodriguezpombo et al., HUMAN PROPIONYL-COA CARBOXYLASE BETA-SUBUNIT GENE - EXON-INTRON DEFINITION AND MUTATION SPECTRUM IN SPANISH AND LATIN-AMERICAN PROPIONIC ACIDEMIA PATIENTS, American journal of human genetics, 63(2), 1998, pp. 360-369
Citation: Lr. Desviat et al., PHENYLKETONURIA IN SPANISH GYPSIES - PREVALENCE OF THE IVS10NT546 MUTATION ON HAPLOTYPE 34, Human mutation, 9(1), 1997, pp. 66-68
Authors:
DESVIAT LR
PEREZ B
GARCIA MJ
MARTINEZPARDO M
BALDELLOU A
ARENA J
SANJURJO P
CAMPISTOL J
COUCE ML
FERNANDEZ A
CARDESA J
UGARTE M
Citation: Lr. Desviat et al., RELATIONSHIP BETWEEN MUTATION GENOTYPE AND BIOCHEMICAL PHENOTYPE IN AHETEROGENEOUS SPANISH PHENYLKETONURIA POPULATION, European journal of human genetics, 5(4), 1997, pp. 196-202
Authors:
RICHARD E
DESVIAT LR
PEREZ B
PEREZCERDA C
UGARTE M
Citation: E. Richard et al., 3 NOVEL SPLICE MUTATIONS IN THE PCCA GENE CAUSING IDENTICAL EXON SKIPPING IN PROPIONIC ACIDEMIA PATIENTS, Human genetics, 101(1), 1997, pp. 93-96
Authors:
CALI F
DIANZANI I
DESVIAT LR
PEREZ B
UGARTE M
OZGUC M
SEYRANTEPE V
SHILOH Y
GIANNATTASIO S
CARDUCCI C
BOSCO P
DELEO G
PIAZZA A
ROMANO V
Citation: F. Cali et al., THE STR252-IVS10NT546-VNTR7 PHENYLALANINE-HYDROXYLASE MINIHAPLOTYPE IN 5 MEDITERRANEAN SAMPLES, Human genetics, 100(3-4), 1997, pp. 350-355
Citation: B. Perez et al., ANALYSIS OF THE PHENYLALANINE-HYDROXYLASE GENE IN THE SPANISH POPULATION - MUTATION PROFILE AND ASSOCIATION WITH INTRAGENIC POLYMORPHIC MARKERS, American journal of human genetics, 60(1), 1997, pp. 95-102
Citation: Lr. Desviat et al., MOLECULAR-BASIS OF NON-PKU HYPERPHENYLALANINEMIA IN SPAIN - PREVALENCE OF A403V, A MUTATION WITH HIGH RESIDUAL ACTIVITY, Journal of inherited metabolic disease, 19(2), 1996, pp. 227-230
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:
MARTINEZPARDO M
COLMENARES AR
GARCIA MJ
PEREZ B
DESVIAT LR
UGARTE M
Citation: M. Martinezpardo et al., PHENOTYPE DISTRIBUTION IN THE SPANISH PHENYLKETONURIA POPULATION AND RELATED GENOTYPES, Journal of inherited metabolic disease, 17(3), 1994, pp. 366-368
Citation: B. Perez et al., DIFFERENT PHENOTYPIC MANIFESTATIONS ASSOCIATED WITH IDENTICAL PHENYLKETONURIA GENOTYPES IN 2 SPANISH FAMILIES, Journal of inherited metabolic disease, 17(3), 1994, pp. 377-378