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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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Bibliografische gegevens
Gepubliceerd in:PLoS One
Hoofdauteurs: Salinas, Danieli B., Sosnay, Patrick R., Azen, Colleen, Young, Suzanne, Raraigh, Karen S., Keens, Thomas G., Kharrazi, Martin
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2016
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Online toegang: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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