Identification of a missense phenylketonuria mutation at codon 408 in Chinese.

doi:10.1007/BF00221944

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Article

Identification of a missense phenylketonuria mutation at codon 408 in Chinese.

Human genetics - 1 Aug 1992

Lin C H, Hsiao K J, Tsai T F, Chao H K, Su T S

Abstract excerpt

A single base transition of G to A at codon 408 of the phenylalanine hydroxylase gene is identified. This missense mutation results in the substitution of Arg408 for Gln408 (R408Q) and accounts for about 5% of phenylketonuria (PKU) chromosomes among Chinese. This mutation is in linkage disequilib...

Topics

Alleles
Base Sequence
Blotting, Southern
China
Codon
Gene Amplification
Haplotypes
Humans
Molecular Sequence Data
Mutation
Nucleic Acid Hybridization
Phenylalanine Hydroxylase
Phenylketonurias
Polymorphism, Restriction Fragment Length

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