ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping
ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping
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Author / Creator
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 and Frey, Brendan J
Publisher
England
Journal title
Language
English
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Publisher
England
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Scope and Contents
Contents
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 compound heterozygous, and is highly prevalent among...
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Full title
ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping
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Record Identifier
TN_cdi_pubmed_primary_33579975
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_33579975
Other Identifiers
E-ISSN
2056-7944
DOI
10.1038/s41525-020-0123-6
