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Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants |
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| Authors: | Ngiwsara Lukana Vatanavicharn Nithiwat Sawangareetrakul Phannee Liammongkolkul Somporn Ratanarak Pisanu Boonyawat Boonchai Srisomsap Chantragan Champattanachai Voraratt Ketudat-Cairns James Wasant Pornswan Svasti Jisnuson |
| Institution: | 1.Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand ;2.Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand ;3.Department of Pediatrics, Phramongkutklao Hospital, Bangkok, Thailand ;4.School of Biochemistry, Institute of Science, Suranaree University of Technology, Nakhon Ratchasima, Thailand ; |
| Abstract: | Molecular Biology Reports - 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... |
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