Article
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
American journal of human genetics - 1 Jul 1996
Guldberg P, Levy H L, Hanley W B, Koch R, Matalon R, Rouse B M, Trefz F, de la Cruz F, Henriksen K F, Güttler F
Abstract excerpt
The major cause of hyperphenylalaninemia is mutations in the gene encoding phenylalanine hydroxylase (PAH). The known mutations have been identified primarily in European patients. The purpose of this study was to determine the spectrum of mutations responsible for PAH deficiency in the United States. One hundred forty-nine patients enrolled in the Maternal PKU Collaborative Study were subjects for clinical and...
Topics
- Alleles
- Base Sequence
- DNA Mutational Analysis
- DNA Primers
- Europe
- Female
- Gene Frequency
- Genetic Variation
- Genotype
- Humans
- Minisatellite Repeats
- Molecular Sequence Data
- Mutation
- Phenotype