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

Autor: Terry Chin, Gregory F. Shay, Mark Pian, Muhammad M. Saeed, Mary Seastrand, Susan O'Bra, Kimberly N. Otsuka, Sanjay Jhawar, Maria Carmen Reyes, Martin Kharrazi, Bradley Chipps, Harry Opsimos, Christopher Landon, Danieli Salinas, Ruth Koepke, Jacquelyn Zirbes, Susan Lehto, Ann Thompson, Bruce Nickerson, Karen Hardy, Carlos Milla, Reddivalam Sudhakar, Eliezer Nussbaum, Lisa Prach, Dennis W. Nielson, Henry A. Wojtczak, Steven Keiles

Publikováno v: Prach, L; Koepke, R; Kharrazi, M; Keiles, S; Salinas, DB; Reyes, MC; et al.(2013). Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. Journal of Molecular Diagnostics, 15(5), 710-722. doi: 10.1016/j.jmoldx.2013.05.006. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/1z5620wv

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 h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6768b0fda8df1c3d3104db396f32854d
https://europepmc.org/articles/PMC5707181/