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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Détails bibliographiques
Publié dans:PLoS One
Auteurs principaux: Salinas, Danieli B., Sosnay, Patrick R., Azen, Colleen, Young, Suzanne, Raraigh, Karen S., Keens, Thomas G., Kharrazi, Martin
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2016
Sujets:
Research Article
Accès en ligne: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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