Article
Evaluation of the disease liability of CFTR variants.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2011
Sosnay Patrick R, Castellani Carlo, Corey Mary, Dorfman Ruslan, Zielenski Julian, Karchin Rachel, Penland Christopher M, Cutting Garry R
Abstract excerpt
Over 1600 novel sequence variants in the CFTR gene have been reported to the CF Mutation Database (http://www.genet.sickkids.on.ca/cftr/Home.html). While about 25 mutations are well characterized by clinical studies and functional assays, the disease liability of most of the remaining mutations is either unclear or unknown. This gap in knowledge has implications for diagnosis, therapy selection, and counseling...
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