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Article

Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations.

European journal of human genetics : EJHG - 1 Jan 1995

Kuzmin A I, Eisensmith R C, Goltsov A A, Sergeeva N A, Schwartz E I, Woo S L

Abstract excerpt

Phenylketonuria (PKU) is an autosomal recessive disorder associated with a deficiency of hepatic phenylalanine hydroxylase (PAH). Although the molecular lesions present in the PAH genes of PKU patients have previously been determined in several Slavic populations, little is known regarding the molecular basis of PKU in the non-Slavic populations of the former Soviet Union. Guthrie card samples from twenty-one...

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Source

Identifiers

PMID: 8528673
DOI: 10.1159/000472305

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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