Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease

22q11.2 Deletion syndrome (22q11.2 DS) [DiGeorge syndrome type 1 (DGS1)] occurs in ∼1:3,000 live births; 75% of children with DGS1 have severe congenital heart disease requiring early intervention. The gold standard for detection of DGS1 is fluorescence in situ hybridization (FISH) with a probe at t...

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Main Authors: Tomita-Mitchell, Aoy, Mahnke, Donna K., Larson, Joshua M., Ghanta, Sujana, Feng, Ying, Simpson, Pippa M., Broeckel, Ulrich, Duffy, Kelly, Tweddell, James S., Grossman, William J., Routes, John M., Mitchell, Michael E.
Formato: Artigo
Idioma:Inglês
Publicado em: American Physiological Society 2010
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Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2957771/
https://ncbi.nlm.nih.gov/pubmed/20551144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/physiolgenomics.00073.2010
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