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Article

[Novel mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese].

Yi chuan xue bao = Acta genetica Sinica - 1 Jan 1997

Sun G, Jiang L, Zhang X, Tong B, Dong G, Sun K

Abstract excerpt

Exon 7 of the phenylalanine hydroxylase (PAH) gene was analyzed in 45 children affected with classic phenylketonuria (PKU) from northern China by using PCR-single strand conformation polymorphism (PCR-SSCP) technique and DNA direct sequencing. Six missense mutations (i.e. R243Q, R241H, G247V, L249H, P254I and G257V) and one silent mutation (V245V) were identified. The latter three missense mutations were...

Topics

Child
China
Exons
Humans
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9575658

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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