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Compound heterozygosis in AADC deficiency: a complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins

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Main Authors: Longo, Carmen (Author) , Montioli, Riccardo (Author) , Bisello, Giovanni (Author) , Palazzi, Luana (Author) , Mastrangelo, Mario (Author) , Brennenstuhl, Heiko (Author) , Polverino de Laureto, Patrizia (Author) , Opladen, Thomas (Author) , Leuzzi, Vincenzo (Author) , Bertoldi, Mariarita (Author)
Format: Article (Journal)
Language:English
Published: 28 August 2021
In: Molecular genetics and metabolism
Year: 2021, Volume: 134, Issue: 1/2, Pages: 147-155
ISSN:1096-7206
DOI:10.1016/j.ymgme.2021.08.011
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ymgme.2021.08.011
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1096719221007757?via%3Dihub
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Author Notes:Carmen Longo, Riccardo Montioli, Giovanni Bisello, Luana Palazzi, Mario Mastrangelo, Heiko Brennenstuhl, Patrizia Polverino de Laureto, Thomas Opladen, Vincenzo Leuzzi, Mariarita Bertoldi
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Item Description:Gesehen am 29.04.2022
Physical Description:Online Resource
ISSN:1096-7206
DOI:10.1016/j.ymgme.2021.08.011

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