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
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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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 prev...
Alternative Titles
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_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7142117
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7142117
Other Identifiers
ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-020-0123-6
