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Article

Heat-transfer-based detection of SNPs in the PAH gene of PKU patients.

International journal of nanomedicine - 1 Jan 2014

Vanden Bon Natalie, van Grinsven Bart, Murib Mohammed Sharif, Yeap Weng Siang, Haenen Ken, De Ceuninck Ward, Wagner Patrick, Ameloot Marcel, Vermeeren Veronique, Michiels Luc

Abstract excerpt

Conventional neonatal diagnosis of phenylketonuria is based on the presence of abnormal levels of phenylalanine in the blood. However, for carrier detection and prenatal diagnosis, direct detection of disease-correlated mutations is needed. To speed up and simplify mutation screening in genes, new technologies are developed. In this study, a heat-transfer method is evaluated as a mutation-detection technology in...

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Source

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Identifiers

PMID: 24741310
DOI: 10.2147/IJN.S58692
PMCID: PMC3970950

Genes

PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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