A carregar...
Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease
BACKGROUND: Mutations in the gene ATP7B cause Wilson disease, a copper storage disorder with a high phenotypic and genetic heterogeneity. We aimed to evaluate whether 'severe' protein-truncating ATP7B mutations (SMs) are associated with low serum ceruloplasmin oxidase activities and an ear...
Na minha lista:
| Main Authors: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2010
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2845088/ https://ncbi.nlm.nih.gov/pubmed/20082719 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-230X-10-8 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|