Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase

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作者： Pecimonova, Martina ^[1] ; Polak, Emil ^[2] ; Csicsay, Frantisek ^[3] ; Reblova, Kamila ^[4] ; Stojiljkovic, Maja ^[5] ; Levarski, Zdenko ; Skultety, Ludovit ; Kadasi, Ludevit ; Soltysova, Andrea

作者单位： Comenius Univ, Dept Mol Biol, Fac Nat Sci, Ilkovicova 6, Bratislava 84215, Slovakia ^[1] Masaryk Univ, Cent European Inst Technol, Brno, Czech Republic ^[2] Slovak Acad Sci, Inst Virol, Biomed Res Ctr, Dubravska Cesta 9, Bratislava 84505, Slovakia ^[3] Univ Belgrade, Inst Mol Genet & Genet Engn, Belgrade, Serbia ^[4] Comenius Univ, Sci Pk,Ilkovicova 8, Bratislava 84104, Slovakia ^[5]

关键词 PAH mutations Phenylketonuria Specific activity Chaperons Functional study

发布时间 2018-01-24

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