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Article

Computational study of missense mutations in phenylalanine hydroxylase.

Journal of molecular modeling - 1 Apr 2015

Réblová Kamila, Kulhánek Petr, Fajkusová Lenka

Abstract excerpt

Hyperphenylalaninemia (HPA) is one of the most common metabolic disorders. HPA, which is transmitted by an autosomal recessive mode of inheritance, is caused by mutations of the phenylalanine hydroxylase gene. Most mutations are missense and lead to reduced protein stability and/or impaired catal...

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Source

Identifiers

PMID: 25750018
DOI: 10.1007/s00894-015-2620-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25750018-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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