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CFTR mutation analysis and haplotype associations in CF patients()

Most newborn screening (NBS) laboratories use second-tier molecular tests for cystic fibrosis (CF) using dried blood spots (DBS). The Centers for Disease Control and Prevention’s NBS Quality Assurance Program offers proficiency testing (PT) in DBS for CF transmembrane conductance regulator (CFTR) ge...

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Autors principals: Cordovado, S.K., Hendrix, M., Greene, C.N., Mochal, S., Earley, M.C., Farrell, P.M., Kharrazi, M., Hannon, W.H., Mueller, P.W.
Format: Artigo
Idioma:Inglês
Publicat: 2011
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3551260/
https://ncbi.nlm.nih.gov/pubmed/22137130
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.10.013
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