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Article

Application of natural and amplification created restriction sites for the diagnosis of PKU mutations.

Nucleic acids research - 11 Apr 1991

Eiken H G, Odland E, Boman H, Skjelkvåle L, Engebretsen L F, Apold J

Abstract excerpt

PCR amplification, either conventional, or as site directed mutagenesis using primers with mismatched 3'-ends, followed by restriction endonuclease digestion, provides rapid, non-isotope assays of known mutations in the human phenylalanine hydroxylase gene. Such assays were shown to have the potential to detect all of the 18 presently reported phenylketonuria mutations. The practical applicability of this...

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Identifiers

PMID: 1851292
DOI: 10.1093/nar/19.7.1427
PMCID: PMC333896

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Source receipt: pubmed, retrieved 7 Sept 2026.

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