Article
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.
PloS one - 1 Jan 2016
Salinas Danieli B, Sosnay Patrick R, Azen Colleen, Young Suzanne, Raraigh Karen S, Keens Thomas G, Kharrazi Martin
Abstract excerpt
BACKGROUND: Of the 2007 Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations, 202 have been assigned disease liability. California's racially diverse population, along with CFTR sequencing as part of newborn screening model, provides the opportunity to examine the phenotypes of children with uncategorized mutations to help inform disease liability and penetrance. METHODS: We conducted a...
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