Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the belgian population

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Michiels, Luc ^a   Frančois, Baudouin ^a   Raus, Jef ^a   Vandevyver, Caroline ^a  

^a HASSELT UNIVERSITY   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BELGIUM; CHROMOSOME 12Q; GENE INSERTION; GENE LOCATION; GENETIC LINKAGE; HUMAN; HYPERPHENYLALANINEMIA; INCIDENCE; MISSENSE MUTATION; PATHOGENESIS; PHENYLKETONURIA; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; BLOOD; CHEMISTRY; ENZYMOLOGY; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; STOP CODON;

DNA; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

AMINO ACID SUBSTITUTION; BELGIUM; CODON, TERMINATOR; DNA; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; HUMANS; MUTAGENESIS, INSERTIONAL; MUTATION; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POINT MUTATION;

EID: 0032239542     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110141     Document Type: Article

References (5)

1. Guldberg P, Henriksen KF, Guttler F (1993) Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. Genomics 17:141-146.
2. Guttler F (1989) Hyperphenylalaninemia: Diagnosis and classifica-tion of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Fediatr Scand 280(suppl):l-80.
3. Hoang L, Byck S, Prevost L, Scriver CR (1996) PAH Mutation Analy-sis Consortium Database: A database for disease-producing and other allelic variation at the human PAH locus. Nucleic Acids Res 24:127-131.
4. Michiels L, Francois B, Raus J, Vandevyver C (1996) Rapid identifi-cation of PKU-associated mutations by multiplex DGGE analysis of the PAH gene. J Inher Metab Dis 19:735-738.
5. Verelst P, Francois B, Cassiman JJ, Raus J (1993) Heterogeneity of Phenylketonuria in Belgium. Dev Brain Dysfunct 6:97-108.