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Article

Variations in genotype-phenotype correlations in phenylketonuria patients.

Genetics and molecular research : GMR - 5 Jan 2010

Santos L L, Fonseca C G, Starling A L P, Januário J N, Aguiar M J B, Peixoto M G C D, Carvalho M R S

Abstract excerpt

Phenylalanine hydroxylase deficiency is a trait inherited in an autosomal recessive pattern; the associated phenotype varies considerably. This variation is mainly due to the considerable allelic heterogeneity in the phenylalanine hydroxylase enzyme locus. We examined the genotype-phenotype corre...

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Identifiers

PMID: 20082265
DOI: 10.4238/vol9-1gmr670

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20082265-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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