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Results: 1-19 |
Results: 19
MOLECULAR-BASIS OF PHENYLKETONURIA IN VENEZUELA - PRESENCE OF 2 NOVELNULL MUTATIONS
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
EFFECT OF THE S349L PKU MUTATION ON THE FOLDING, STABILITY AND ACTIVITY OF THE PAH PROTEIN
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
HUMAN PROPIONYL-COA CARBOXYLASE BETA-SUBUNIT GENE - EXON-INTRON DEFINITION AND MUTATION SPECTRUM IN SPANISH AND LATIN-AMERICAN PROPIONIC ACIDEMIA PATIENTS
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
PHENYLKETONURIA IN SPANISH GYPSIES - PREVALENCE OF THE IVS10NT546 MUTATION ON HAPLOTYPE 34
Authors: DESVIAT LR PEREZ B UGARTE M
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
RELATIONSHIP BETWEEN MUTATION GENOTYPE AND BIOCHEMICAL PHENOTYPE IN AHETEROGENEOUS SPANISH PHENYLKETONURIA POPULATION
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
3 NOVEL SPLICE MUTATIONS IN THE PCCA GENE CAUSING IDENTICAL EXON SKIPPING IN PROPIONIC ACIDEMIA PATIENTS
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
THE STR252-IVS10NT546-VNTR7 PHENYLALANINE-HYDROXYLASE MINIHAPLOTYPE IN 5 MEDITERRANEAN SAMPLES
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
ANALYSIS OF THE PHENYLALANINE-HYDROXYLASE GENE IN THE SPANISH POPULATION - MUTATION PROFILE AND ASSOCIATION WITH INTRAGENIC POLYMORPHIC MARKERS
Authors: PEREZ B DESVIAT LR UGARTE M
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
MUTATION ANALYSIS OF PHENYLKETONURIA IN SOUTH BRAZIL
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
MOLECULAR-BASIS OF NON-PKU HYPERPHENYLALANINEMIA IN SPAIN - PREVALENCE OF A403V, A MUTATION WITH HIGH RESIDUAL ACTIVITY
Authors: DESVIAT LR PEREZ B UGARTE M
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
EXPRESSION ANALYSIS OF MUTATION P244L, WHICH CAUSES MILD HYPERPHENYLALANINEMIA
Authors: PEREZ B DESVIAT LR UGARTE M
Citation: B. Perez et al., EXPRESSION ANALYSIS OF MUTATION P244L, WHICH CAUSES MILD HYPERPHENYLALANINEMIA, Human mutation, 5(2), 1995, pp. 188-190
MUTATIONS AND POLYMORPHISMS IN THE PHENYLALANINE-HYDROXYLASE GENE IN CHILE
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
EVIDENCE IN LATIN-AMERICA OF RECURRENCE OF V388M, A PHENYLKETONURIA MUTATION WITH HIGH IN-VITRO RESIDUAL ACTIVITY
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
SPECTRUM AND ORIGIN OF PHENYLKETONURIA MUTATIONS IN SPAIN
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
PHENOTYPE DISTRIBUTION IN THE SPANISH PHENYLKETONURIA POPULATION AND RELATED GENOTYPES
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
DIFFERENT PHENOTYPIC MANIFESTATIONS ASSOCIATED WITH IDENTICAL PHENYLKETONURIA GENOTYPES IN 2 SPANISH FAMILIES
Authors: PEREZ B DESVIAT LR GARCIA MJ UGARTE M
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
PRESENCE OF THE MEDITERRANEAN PKU MUTATION IVS10 IN LATIN-AMERICA
Authors: PEREZ B DESVIAT LR DIE M CORNEJO V CHAMOLES NA NICOLINI H UGARTE M
Citation: B. Perez et al., PRESENCE OF THE MEDITERRANEAN PKU MUTATION IVS10 IN LATIN-AMERICA, Human molecular genetics, 2(8), 1993, pp. 1289-1290
PHENYLKETONURIA IN SPAIN - RFLP HAPLOTYPES AND LINKED MUTATIONS
Authors: DESVIAT LR PEREZ B UGARTE M
Citation: Lr. Desviat et al., PHENYLKETONURIA IN SPAIN - RFLP HAPLOTYPES AND LINKED MUTATIONS, Human genetics, 92(3), 1993, pp. 254-258
PKU IN LATIN-AMERICA - IVS10 MUTATION REPORT
Authors: PEREZ B DESVIAT LR DIE M NICOLINI H VELAZQUEZ A CHAMOLES NA FUSTA M SPECOLA NB COLOMO M RAIMANN E CORNEJO V UGARTE M
Citation: B. Perez et al., PKU IN LATIN-AMERICA - IVS10 MUTATION REPORT, American journal of human genetics, 53(3), 1993, pp. 841-841
Risultati: 1-19 |