Molecular basis of non-PKU hyperphenylalaninaemia in Spain: Prevalence of A403V, a mutation with high residual activity

Journal of Inherited Metabolic Disease

Volumn 19, Issue 2, 1996, Pages 227-230

  Desviat, L R ^a   Perez B ^a   Ugarte, M ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

CONFERENCE PAPER; ENZYME ACTIVITY; GENE ACTIVITY; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; HAPLOTYPE; HUMAN; HYPERPHENYLALANINEMIA; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION;

CELL LINE; HETEROZYGOTE; HUMANS; MUTATION; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SPAIN;

EID: 0029932011     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799436     Document Type: Conference Paper

References (8)

1. Avigad S, Kleiman S, Weinstein M, et al. (1991) Compound heterozygosity in nonphenylketonuria hyperphenylalaninemia: the contribution of mutations for classical phenylketonuria. Am J Hum Genet 49: 393-399.
2. Desviat LR, Pérez B, Ugarte M (1993) Phenylketonuria in Spain: RFLP haplotypes and linked mutations. Hum Genet 92: 254-258.
3. Economou-Petersen E, Henriksen KF, Guldberg P, Güttler F (1992) Molecular basis for nonphenylketonuria hyperphenylalaninemia. Genomics 14: 1-5.
4. Eiken HG, Odland E, Boman H, Skjelkvale L, Engerbretsen LF, Apold J (1991) Application of natural and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Res 19: 1427-1430.
5. Guldberg P, Romano V, Ceratto N, et al (1993) Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe. Hum Mol Genet 2: 1703-1707.
6. Guldberg P, Henriksen KF, Thöny B, Blau N, Güttler F (1994) Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. Genomics 21: 453-455.
7. Martínez-Pardo M, Colmenares AR, García MJ, Pérez B, Desviat LR, Ugarte M (1994) Phenotype distribution in the Spanish phenylketonuria population and related genotypes. J Inher Metab Dis 17: 366-368.
8. Pérez B, Desviat LR, Ugarte M (1995) Expression analysis of the P244L mutation which causes mild hyperphenylalaninemia. Hum Mutat 5: 188-190.