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A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
BACKGROUND: Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain. This disease is mainly characterized by hepatic disorders and less frequently by neuro‐psychiatric disturbances. This recessive disease is due to mu...
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| Publicat a: | Mol Genet Genomic Med |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7549599/ https://ncbi.nlm.nih.gov/pubmed/32770663 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1428 |
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