Zobrazeno 1 - 1
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pro vyhledávání: '"Beatek Tarnacka"'
Autor:
Thomas Litwin, Beatek Tarnacka, Grzegorz Chabik, Harmut H.J. Schmidt, Janine Genschel, Bettina Bochow, Graznya Gromadzka, M. Rodo, Anna Członkowska
Publikováno v:
Movement Disorders. 21:245-248
We compared the effect of the p.H1069Q mutation and other non-p.H1069Q mutations in ATP7B on the phenotypic expression of Wilson's disease (WD), and assessed whether the clinical phenotype of WD in compound heterozygotes depends on the type of mutati