Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant

Wilson disease is a medically actionable rare autosomal recessive disorder of defective copper excretion caused by mutations in ATP7B, one of two highly evolutionarily conserved copper-transporting ATPases. Hundreds of disease-causing variants in ATP7B have been reported to public databases; more th...

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Bibliografiske detaljer
Udgivet i:Cold Spring Harb Mol Case Stud
Main Authors: Koboldt, Daniel C., Hickey, Scott E., Chaudhari, Bimal P., Mihalic Mosher, Theresa, Bedrosian, Tracy, Crist, Erin, Kaler, Stephen G., McBride, Kim, White, Peter, Wilson, Richard K.
Format: Artigo
Sprog:Inglês
Udgivet: Cold Spring Harbor Laboratory Press 2020
Fag:
Research Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7304350/
https://ncbi.nlm.nih.gov/pubmed/32532881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a005306
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