Article
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.
Human mutation - 1 Jan 1992
John S W, Scriver C R, Laframboise R, Rozen R
Abstract excerpt
Mutations at the phenylalanine hydroxylase (PAH) locus are the major cause of hyperphenylalaninemia. We have previously described four mutations (M1V, IVS12nt1, R408W, and S349P) at the PAH locus in French Canadians with ancestry in eastern Quebec. Here we report (1) identification of another mutation, on a haplotype 9 chromosome, which converts codon 65 from isoleucine (ATT) to threonine (ACT), (2) expression...
Topics
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Animals
- Base Sequence
- Cell Line
- Codon
- Exons
- Female
- France
- Genotype
- Humans
- Isoleucine