Article
Phenylketonuria missense mutations in the Mediterranean.
Genomics - 1 Jan 1991
Okano Y, Wang T, Eisensmith R C, Longhi R, Riva E, Giovannini M, Cerone R, Romano C, Woo S L
Abstract excerpt
Two missense mutations have been identified in the phenylalanine hydroxylase (PAH) genes of an Italian phenylketonuria (PKU) patient. Both mutations occurred in exon 7 of the PAH gene, resulting in the substitution of Trp for Arg at amino acid 252 (R252W) and of Leu for Pro (P281L) at amino acid 281 of the protein. Expression vectors containing either the normal human PAH cDNA or mutant cDNAs were constructed and...
Topics
- Base Sequence
- Cells, Cultured
- Cloning, Molecular
- Exons
- Female
- Genes
- Genetics, Population
- Humans
- Italy
- Male
- Molecular Sequence Data
- Mutation