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

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 child...

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Bibliographic Details
Published in:PLoS One
Main Authors: Salinas, Danieli B., Sosnay, Patrick R., Azen, Colleen, Young, Suzanne, Raraigh, Karen S., Keens, Thomas G., Kharrazi, Martin
Format: Artigo
Language:Inglês
Published: Public Library of Science 2016
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4877015/
https://ncbi.nlm.nih.gov/pubmed/27214204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0155624
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