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pro vyhledávání: '"Rossella Franchini"'
Autor:
Giovanni Bisello, Christiaan G.J. Saris, Rossella Franchini, Marcel M. Verbeek, Michel A.A.P. Willemsen, Massimiliano Perduca, Mariarita Bertoldi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101071- (2024)
A case of an adult with borderline AADC deficiency symptoms is presented here. Genetic analysis revealed that the patient carries two AADC variants (NM_000790.3: c.1040G > A and c.679G > C) in compound heterozygosis, resulting in p.Arg347Gln and p.Gl
Externí odkaz:
https://doaj.org/article/f88bb0ba303b4684a3d20c32400d0a85