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Article

Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.

Molecular biology reports - 1 Mar 2021

Ngiwsara Lukana, Vatanavicharn Nithiwat, Sawangareetrakul Phannee, Liammongkolkul Somporn, Ratanarak Pisanu, Boonyawat Boonchai, Srisomsap Chantragan, Champattanachai Voraratt, Ketudat-Cairns James, Wasant Pornswan, Svasti Jisnuson

Abstract excerpt

Phenylketonuria (PKU) is an autosomal recessive amino acid metabolism disorder caused by variants in the gene encoding phenylalanine hydroxylase (PAH; EC1.14.16.1). This study aimed to assess the specific heterogeneity of PAH variants found in Thai population as well as evaluate enzyme activity and expression of novel variants. PAH gene from 13 patients was analyzed by PCR amplification and direct...

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Identifiers

PMID: 33677757
DOI: 10.1007/s11033-021-06163-w

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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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