Identification of Cystic Fibrosis Variants by Polymerase Chain Reaction/Oligonucleotide Ligation Assay

The purpose of this work is to define rare variants of cystic fibrosis (CF) that are potential sources of error and can confound molecular genetic testing methods. We performed routine, clinical CF mutation screening using a laboratory-developed test and the oligonucleotide ligation assay reagents f...

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Autors principals: Schwartz, Karen M., Pike-Buchanan, Lisa L., Muralidharan, Kasinathan, Redman, Joy B., Wilson, Jean Amos, Jarvis, Michael, Cura, M. Grace, Pratt, Victoria M.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Investigative Pathology 2009
Matèries:
Regular Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2671338/
https://ncbi.nlm.nih.gov/pubmed/19324992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2009.080106
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