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Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.
Ngiwsara, Lukana; Vatanavicharn, Nithiwat; Sawangareetrakul, Phannee; Liammongkolkul, Somporn; Ratanarak, Pisanu; Boonyawat, Boonchai; Srisomsap, Chantragan; Champattanachai, Voraratt; Ketudat-Cairns, James; Wasant, Pornswan; Svasti, Jisnuson.
Afiliación
  • Ngiwsara L; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
  • Vatanavicharn N; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. nithiwat_v@hotmail.com.
  • Sawangareetrakul P; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
  • Liammongkolkul S; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Ratanarak P; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Boonyawat B; Department of Pediatrics, Phramongkutklao Hospital, Bangkok, Thailand.
  • Srisomsap C; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
  • Champattanachai V; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
  • Ketudat-Cairns J; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
  • Wasant P; School of Biochemistry, Institute of Science, Suranaree University of Technology, Nakhon Ratchasima, Thailand.
  • Svasti J; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Mol Biol Rep ; 48(3): 2063-2070, 2021 Mar.
Article en En | MEDLINE | ID: mdl-33677757
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenilalanina Hidroxilasa / Fenilcetonurias / Variación Genética Tipo de estudio: Prognostic_studies Límite: Animals / Humans País/Región como asunto: Asia Idioma: En Revista: Mol Biol Rep Año: 2021 Tipo del documento: Article País de afiliación: Tailandia Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenilalanina Hidroxilasa / Fenilcetonurias / Variación Genética Tipo de estudio: Prognostic_studies Límite: Animals / Humans País/Región como asunto: Asia Idioma: En Revista: Mol Biol Rep Año: 2021 Tipo del documento: Article País de afiliación: Tailandia Pais de publicación: Países Bajos