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Article

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

Genomics - 1 Jul 1993

Guldberg P, Henriksen K F, Güttler F

Abstract excerpt

We present the results of a comprehensive study on the molecular basis of phenylketonuria (PKU) in Denmark. A strategy relying on PCR in combination with denaturing gradient gel electrophoresis for analyzing the coding sequence and splice site junctions of the phenylalanine hydroxylase gene allowed us to detect a molecular defect on 99% of 308 Danish PKU chromosomes. The mutational spectrum consists of 35...

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Identifiers

PMID: 8406445
DOI: 10.1006/geno.1993.1295

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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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