Analysis of Wilson disease mutations in copper binding domain of ATP7B gene.
Wilson's disease (WD) is an autosomal recessive disorder, resulting from variations in ATP7B gene. Clinical heterogeneity, including neuropsychiatric and hepatic manifestations over a large range of age groups make diagnosis difficult. Most of WD patients suffer severe disabilities and even die. So,...
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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
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Public Library of Science (PLoS)
2022-01-01
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| Schriftenreihe: | PLoS ONE |
| Online-Zugang: | https://doi.org/10.1371/journal.pone.0269833 |
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