Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California

di Salinas, Danieli B., Sosnay, Patrick R., Azen, Colleen, Young, Suzanne, Raraigh, Karen S., Keens, Thomas G., Kharrazi, Martin
Pubblicato in PLoS One (2016)

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

di 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
Pubblicato in J Mol Diagn (2013)