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

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

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...

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Main Authors: Lukana Ngiwsara, Nithiwat Vatanavicharn, Phannee Sawangareetrakul, Somporn Liammongkolkul, Pisanu Ratanarak, Boonchai Boonyawat, Chantragan Srisomsap, Voraratt Champattanachai, James Ketudat-Cairns, Pornswan Wasant, Jisnuson Svasti
Other Authors: Chulabhorn Research Institute
Format: Article
Published: 2022
Subjects:
Biochemistry, Genetics and Molecular Biology
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/76261
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Institution: Mahidol University

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https://repository.li.mahidol.ac.th/handle/123456789/76261

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