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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Mol Diagn
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Investigative Pathology 2016
Pynciau:
Regular Article
Mynediad Ar-lein: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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