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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 c...

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Detalhes bibliográficos
Main Authors: Danieli B Salinas, Patrick R Sosnay, Colleen Azen, Suzanne Young, Karen S Raraigh, Thomas G Keens, Martin Kharrazi
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science (PLoS) 2016-01-01
Colecção:PLoS ONE
Acesso em linha:http://europepmc.org/articles/PMC4877015?pdf=render
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