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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Front Pediatr |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Frontiers Media S.A.
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5937294/ https://ncbi.nlm.nih.gov/pubmed/29761093 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2018.00106 |
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