Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis

Newborn screening for cystic fibrosis enables early detection and management of this debilitating genetic disease. Implementing comprehensive CFTR analysis using Sanger sequencing as a component of confirmatory testing of all screen-positive newborns has remained impractical due to relatively length...

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Dettagli Bibliografici
Pubblicato in:J Mol Diagn
Autori principali: Lefterova, Martina I., Shen, Peidong, Odegaard, Justin I., Fung, Eula, Chiang, Tsoyu, Peng, Gang, Davis, Ronald W., Wang, Wenyi, Kharrazi, Martin, Schrijver, Iris, Scharfe, Curt
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Investigative Pathology 2016
Soggetti:
Regular Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4816703/
https://ncbi.nlm.nih.gov/pubmed/26847993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2015.11.005
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