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Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease
BACKGROUND: Wilson's disease (WD) is an autosomal recessive genetic disease caused by mutations in ATP7B and characterized by copper metabolism disorders. METHODS: Direct sequencing of the ATP7B gene is the most sensitive and widely used confirmatory testing method. Fourteen probands with WD an...
Gorde:
| Argitaratua izan da: | Mol Genet Genomic Med |
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| Egile Nagusiak: | , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
John Wiley and Sons Inc.
2019
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6503029/ https://ncbi.nlm.nih.gov/pubmed/30884209 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.649 |
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