Article
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
Cold Spring Harbor molecular case studies - 1 Jun 2020
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
Abstract excerpt
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 than half of these are missense changes, and a significant proportion are presumed unequivocal loss-of-function...
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