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Article

Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.

Genomics - 1 Jan 1991

Dworniczak B, Grudda K, Stümper J, Bartholomé K, Aulehla-Scholz C, Horst J

Abstract excerpt

By direct sequence analysis of 94 mutant phenylalanine hydroxylase alleles using polymerase chain reaction-based techniques, we identified a C to T transition in exon 7 of the human phenylalanine hydroxylase gene that is associated with RFLP haplotypes 1 and 4. A leucine for proline substitution at position 281 can be predicted from the nucleotide sequence of the mutant codon. Expression analysis in cultured...

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PMID: 1672290
DOI: 10.1016/0888-7543(91)90238-a

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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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