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High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence
BACKGROUND: Wilson’s disease (WD) is a rare autosomal recessive metabolic disease caused by ATP7B gene mutations tat cause excessively high copper levels, particularly in the liver and brain. The WD phenotype varies in terms of its clinical presentation and intensity. Diagnosing this metabolic disor...
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| Publicado no: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6086069/ https://ncbi.nlm.nih.gov/pubmed/30097039 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0660-3 |
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