Wilsonova choroba
Rozsah vyšetrenia: gén ATP7B, variant p.H1069Q
Analyzačná metóda: TaqMan esej, priame sekvenovanie
Wilson disease ( https://omim.org/entry/277900) is an autosomal recessive disorder characterized by dramatic build-up of intracellular hepatic copper with subsequent hepatic and neurologic abnormalities.
De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Wilson disease.
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