Article
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.
Human mutation - 1 Jan 1992
Kleiman S, Bernstein J, Schwartz G, Eisensmith R C, Woo S L, Shiloh Y
Abstract excerpt
Phenylketonuria (PKU) and benign hyperphenylalaninemia (HPA) result from different combinations of mutations at the locus for phenylalanine hydroxylase (PAH). While some of these mutations show widespread ethnic distribution, others are unique to specific communities. We report here the first point mutation common among Palestinian Arabs. The mutation (IVS2nt1) involves a dinucleotide substitution (Gg-->Aa) at...
Topics
- Base Sequence
- DNA
- DNA Mutational Analysis
- Ethnicity
- Female
- Genotype
- Humans
- Israel
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype