Article
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
Human mutation - 1 Oct 2002
Loudianos G, Lovicu M, Dessi V, Tzetis M, Kanavakis E, Zancan L, Zelante L, Galvèz-Galvèz C, Cao A
Abstract excerpt
More than 200 Wilson disease (WD) disease-causing mutations have been defined to date. Missense mutations are largely prevalent while splice-site mutations are limited in number. Most reside in the splice donor or acceptor sites and only a minority are detected in splicing consensus sequences. Furthermore, only a few splicing mutations have been studied at the RNA level to date. In this study, using the RT-PCR...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.