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Article

[Advances in the studies of molecular heredity of phenylketonuria].

Yi chuan = Hereditas - 1 Sept 2004

Zhang Zhi, He Yun-Shao

Abstract excerpt

Phenylketonuria (PKU) is one kinds of autosomal recessive disease caused by phenylalanine hydroxylase (PAH) gene mutation. This article reviews the recent molecular heredity progress on the phenylalanine hydroxylase gene's orientation, structure, and gene mutation and gene regulation. At same time, mutation gene in vitro expression and the character of 3D structure of PAH in PKU are involved. In this paper, also...

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Source

Identifiers

PMID: 15640093

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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