Novel CFTR Variants Identified during the First 3 Years of Cystic Fibrosis Newborn Screening in California

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 s...

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Zapisane w:
Opis bibliograficzny
Wydane w:J Mol Diagn
Główni autorzy: 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
Format: Artigo
Język:Inglês
Wydane: American Society for Investigative Pathology 2013
Hasła przedmiotowe:
Article
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5707181/
https://ncbi.nlm.nih.gov/pubmed/23810505
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2013.05.006
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