A Novel Mutation of <i>ATP7B</i> Gene in a Case of Wilson Disease
Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical pres...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-01-01
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| Series: | Medicina |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1010-660X/57/2/123 |