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Wilson’s Disease—Genetic Puzzles with Diagnostic Implications

(1) Introduction: Wilson’s disease (WND) is an autosomal recessive disorder of copper metabolism. The WND gene is ATP7B, located on chromosome 13. WND is characterized by high clinical variability, which causes diagnostic difficulties. (2) Methods: The PubMed, Science Direct, and Wiley Online Librar...

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Detalles Bibliográficos
Autores principales: Gromadzka, Grażyna, Bendykowska, Maria, Przybyłkowski, Adam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10093728/
https://www.ncbi.nlm.nih.gov/pubmed/37046505
http://dx.doi.org/10.3390/diagnostics13071287