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Article

PAH 399 GTA (Val)----GTT(Val), a new silent mutation found in the Chinese.

Human genetics - 1 Jan 1991

Huang S Z, Ren Z R, Zeng Y T, Woo S L

Abstract excerpt

A silent mutation or sequence polymorphism, an A to T substitution at codon 399 in exon 11 of the phenylalanine hydroxylase (PAH) gene has been identified by DNA sequence analysis in the Chinese. The frequencies of this new mutation in normal and abnormal (phenylketonuria: PKU) genes are 0.005 and 0.09, respectively, based on the analyses of 100 apparently normal individuals and 39 PKU patients, as demonstrated...

Topics

Base Sequence
China
Codon
Genes
Humans
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Phenylalanine Hydroxylase
Phenylketonurias
Reference Values
Valine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1997387
DOI: 10.1007/BF00202416

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1997387-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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