Article
Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease.
Clinical genetics - 1 Nov 2003
Cullen L M, Prat L, Cox D W
Abstract excerpt
ATP7B is a copper-transporting P-type ATPase defective in the copper transport disorder, Wilson disease (WND). We have sequenced the 5' UTR and promoter region of ATP7B in 37 unrelated WND patients in whom partial sequencing of the coding region and intron/exon boundaries of the gene had failed to identify one or both disease-causing mutations. Three patients were found to be heterozygous for a 15 bp deletion...
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