volume 11, issue 5, Pe0155624 2016
DOI: 10.1371/journal.pone.0155624
View full text
|
|
Share

Abstract: BackgroundOf 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.MethodsWe conducted a retrospective cohort study based on children screened from 2007 to 2011 and followed for two to six years. Newborn…

Expand abstract

Search citation statements

Order By: Relevance

Citation Types

0
16
0

Paper Sections

0
0
0
0
0

Publication Types

0
0
0
0

Relationship

0
0

Authors

Journals