Ontology highlight
ABSTRACT:
SUBMITTER: Prach L
PROVIDER: S-EPMC5707181 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Prach Lisa L Koepke Ruth R Kharrazi Martin M Keiles Steven S Salinas Danieli B DB Reyes Maria Carmen MC Pian Mark M Opsimos Harry H Otsuka Kimberly N KN Hardy Karen Ann KA Milla Carlos E CE Zirbes Jacquelyn M JM Chipps Bradley B O'Bra Susan S Saeed Muhammad M MM Sudhakar Reddivalam R Lehto Susan S Nielson Dennis D Shay Gregory F GF Seastrand Mary M Jhawar Sanjay S Nickerson Bruce B Landon Christopher C Thompson Ann A Nussbaum Eliezer E Chin Terry T Wojtczak Henry H
The Journal of molecular diagnostics : JMD 20130628 5
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 systematically followed, allowing for prospective assessment of the pathogenic potential ...[more]