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Article

Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.

Human genetics - 1 Mar 2002

Chen Kuan-Ju, Chao Hung-Kun, Hsiao Kwang-Jen, Su Tsung-Sheng

Abstract excerpt

The liver-specific phenylalanine hydroxylase catalyzes the conversion of phenylalanine to tyrosine. Genetic defects in the gene result in the autosomal recessive disorder phenylketonuria. We have identified a phenylalanine hydroxylase mutation, designated as -4173_-407del, in a hyperphenylalaninemic patient with a 3.7-kb deletion in the 5'-flanking region of the phenylalanine hydroxylase gene. Characterization of...

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Identifiers

PMID: 11935335
DOI: 10.1007/s00439-002-0677-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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