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Rapid Molecular Analysis of the STAT3 Gene in Job Syndrome of Hyper-IgE and Recurrent Infectious Diseases

With the recent discovery of mutations in the STAT3 gene in the majority of patients with classic Hyper-IgE syndrome, it is now possible to make a molecular diagnosis in most of these cases. We have developed a PCR-based high-resolution DNA-melting assay to scan selected exons of the STAT3 gene for...

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Bibliografiske detaljer
Main Authors: Kumánovics, Attila, Wittwer, Carl T., Pryor, Robert J., Augustine, Nancy H., Leppert, Mark F., Carey, John C., Ochs, Hans D., Wedgwood, Ralph J., Faville, Ralph J., Quie, Paul G., Hill, Harry R.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Investigative Pathology 2010
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2871728/
https://ncbi.nlm.nih.gov/pubmed/20093388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2010.090080
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