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Article

In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.

Human mutation - 1 Jan 1998

Waters P J, Parniak M A, Nowacki P, Scriver C R

Abstract excerpt

Mutations in the human phenylalanine hydroxylase gene (PAH) altering the expressed cDNA nucleotide sequence (GenBank U49897) can impair activity of the corresponding enzyme product (hepatic phenylalanine hydroxylase, PAH) and cause hyperphenylalaninemia (HPA), a metabolic phenotype for which the major disease form is phenylketonuria (PKU; OMIM 261600). In vitro expression analysis of inherited human mutations in...

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Source

Identifiers

PMID: 9450897
DOI: 10.1002/(SICI)1098-1004(1998)11:1<4::AID-HUMU2>3.0.CO;2-L

Genes

PAH

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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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In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.PMID 9450897Read ↗

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