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Article

Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.

Journal of medical genetics - 1 Apr 1993

Kleiman S, Vanagaite L, Bernstein J, Schwartz G, Brand N, Elitzur A, Woo S L, Shiloh Y

Abstract excerpt

Phenylketonuria (PKU) and benign hyperphenylalaninaemia (HPA) result from a variety of mutations in the gene for the hepatic enzyme phenylalanine hydroxylase. PKU has been found in the Israeli population in two variants, classical and atypical. The two are clinically indistinguishable and require...

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Identifiers

PMID: 8487271
DOI: 10.1136/jmg.30.4.284
PMCID: PMC1016333

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8487271-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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