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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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Hlavní autoři: Schwartz, Karen M., Pike-Buchanan, Lisa L., Muralidharan, Kasinathan, Redman, Joy B., Wilson, Jean Amos, Jarvis, Michael, Cura, M. Grace, Pratt, Victoria M.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Investigative Pathology 2009
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On-line přístup: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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