A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.
Author
Hoang, Quyen Q
Wang, Wei
Petsko, Gregory A
Emre, Murat
Bonifati, Vincenzo
Fevga, Christina
Park, Yangshin
Lohmann, Ebba
Kievit, Anneke J
Breedveld, Guido J
Ferraro, Federico
de Boer, Leon
van Minkelen, Rick
Hanagasi, Haşmet Ayhan
Boon, Agnita
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Introduction: Missense variants and multiplications of the alpha-synuclein gene (SNCA) are established as rare causes of autosomal dominant forms of Parkinson's Disease (PD).
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http://hdl.handle.net/20.500.12627/175747https://avesis.istanbul.edu.tr/api/publication/f90bfc95-8a8d-49e2-8daa-c554351111e4/file
https://doi.org/10.1016/j.parkreldis.2021.06.023
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