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Article

Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria.

Human mutation - 1 Jan 1992

Ramus S J, Forrest S M, Cotton R G

Abstract excerpt

Illegitimately transcribed phenylalanine hydroxylase mRNA was amplified using the polymerase chain reaction from both fibroblasts and Epstein-Barr virus-transformed lymphocytes. This method was used to study mutations of this gene in patients with phenylketonuria and known point mutations were easily detected. Illegitimate transcription was successful for studying splicing defects and it was found that the...

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PMID: 1301202
DOI: 10.1002/humu.1380010211

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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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