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A Novel Mutation of ATP7B 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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Medicina (Kaunas) |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
MDPI
2021
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7912016/ https://ncbi.nlm.nih.gov/pubmed/33573009 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/medicina57020123 |
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