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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...
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| Foilsithe in: | Medicina (Kaunas) |
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| Main Authors: | , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
MDPI
2021
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| Ábhair: | |
| Rochtain Ar Líne: | 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 |
| Clibeanna: |
Cuir Clib Leis
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