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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Detalles Bibliográficos
Autores principales: Salinas, Danieli B., Sosnay, Patrick R., Azen, Colleen, Young, Suzanne, Raraigh, Karen S., Keens, Thomas G., Kharrazi, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4877015/
https://www.ncbi.nlm.nih.gov/pubmed/27214204
http://dx.doi.org/10.1371/journal.pone.0155624

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