Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease
Background: Diagnosis of rare Wilson disease (WD) in pediatric patients is difficult, in particular when hepatic manifestation is absent. Genetic analysis of ATP7B represents the single major determinant of the diagnostic scoring system in WD children having mild symptoms.Objectives: To assess the i...
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| Principais autores: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2018-04-01
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| coleção: | Frontiers in Pediatrics |
| Assuntos: | |
| Acesso em linha: | http://journal.frontiersin.org/article/10.3389/fped.2018.00106/full |
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