A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease

BACKGROUND: Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain. This disease is mainly characterized by hepatic disorders and less frequently by neuro‐psychiatric disturbances. This recessive disease is due to mu...

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Detalles Bibliográficos
Autores principales: Woimant, France, Poujois, Aurelia, Bloch, Adrien, Jordi, Tabaras, Laplanche, Jean‐Louis, Morel, Hélène, Collet, Corinne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549599/
https://www.ncbi.nlm.nih.gov/pubmed/32770663
http://dx.doi.org/10.1002/mgg3.1428

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549599/
https://www.ncbi.nlm.nih.gov/pubmed/32770663
http://dx.doi.org/10.1002/mgg3.1428

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