Wilson Disease: Mutations in the ATP7B Gene

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The cause of Wilson disease is a mutation in the ATP7B gene, also termed Wilson gene. In most affected individuals, symptoms usually start to appear between 5 and 35 years of age. In its initial stages, liver damage is usually present. As the disease progresses, the central nervous system is involved.

Outline:
00:00 - Introduction
02:04 - Pathophysiology
04:29 - Laboratory findings
08:05 - Clinical findings

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