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Article

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.

Journal of medical genetics - 1 Oct 1991

Kalaydjieva L, Dworniczak B, Aulehla-Scholz C, Devoto M, Romeo G, Sturhmann M, Kucinskas V, Yurgelyavicius V, Horst J

Abstract excerpt

Direct sequencing of the phenylalanine hydroxylase (PAH) gene indicated the existence of silent mutations in codons 232, 245, and 385, linked to specific RFLP haplotypes in several Caucasian populations, namely Germans, Bulgarians, Italians, Turks, and Lithuanians. All three mutations create a new restriction site and can be easily detected on PCR amplified DNA. The usefulness of the silent mutations for...

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Identifiers

PMID: 1682495
DOI: 10.1136/jmg.28.10.686
PMCID: PMC1017055

Genes

PAH

Provenance

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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