Article
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
The Journal of molecular diagnostics : JMD - 1 Sept 2013
Prach Lisa, Koepke Ruth, Kharrazi Martin, Keiles Steven, Salinas Danieli B, Reyes Maria Carmen, Pian Mark, Opsimos Harry, Otsuka Kimberly N, Hardy Karen Ann, Milla Carlos E, Zirbes Jacquelyn M, Chipps Bradley, O'Bra Susan, Saeed Muhammad M, Sudhakar Reddivalam, Lehto Susan, Nielson Dennis, Shay Gregory F, Seastrand Mary, Jhawar Sanjay, Nickerson Bruce, Landon Christopher, Thompson Ann, Nussbaum Eliezer, Chin Terry, Wojtczak Henry
Abstract excerpt
California uses a unique method to screen newborns for cystic fibrosis (CF) that includes gene scanning and DNA sequencing after only one California-40 cystic fibrosis transmembrane conductance regulator (CFTR) panel mutation has been identified in hypertrypsinogenemic specimens. Newborns found by sequencing to have one or more additional mutations or variants (including novel variants) in the CFTR gene are...
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