Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis

Wilson’s disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B resulting in copper overload in the liver and brain. Direct sequencing is routinely used to confirm WD diagnosis; however, partial and whole gene deletions in the heterozygous state cannot be detected by exon a...

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Detalles Bibliográficos
Autores principales: Todorov, Theodor, Balakrishnan, Prahlad, Savov, Alexey, Socha, Piotr, Schmidt, Hartmut H. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5167361/
https://www.ncbi.nlm.nih.gov/pubmed/27992490
http://dx.doi.org/10.1371/journal.pone.0168372

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5167361/
https://www.ncbi.nlm.nih.gov/pubmed/27992490
http://dx.doi.org/10.1371/journal.pone.0168372

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