ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping

Wilson disease is a recessive genetic disorder caused by pathogenic loss-of-function variants in the ATP7B gene. It is characterized by disrupted copper homeostasis resulting in liver disease and/or neurological abnormalities. The variant NM_000053.3:c.1934T > G (Met645Arg) has been reported as c...

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Detalles Bibliográficos
Autores principales: Merico, Daniele, Spickett, Carl, O’Hara, Matthew, Kakaradov, Boyko, Deshwar, Amit G., Fradkin, Phil, Gandhi, Shreshth, Gao, Jiexin, Grant, Solomon, Kron, Ken, Schmitges, Frank W., Shalev, Zvi, Sun, Mark, Verby, Marta, Cahill, Matthew, Dowling, James J., Fransson, Johan, Wienholds, Erno, Frey, Brendan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7142117/
https://www.ncbi.nlm.nih.gov/pubmed/32284880
http://dx.doi.org/10.1038/s41525-020-0123-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7142117/
https://www.ncbi.nlm.nih.gov/pubmed/32284880
http://dx.doi.org/10.1038/s41525-020-0123-6

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