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Multiplex Ligation-Dependent Probe Amplification Analysis of GATA4 Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease

GATA4 mutations are found in patients with different isolated congenital heart defects (CHDs), mostly cardiac septal defects and tetralogy of Fallot. In addition, GATA4 is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformatio...

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書誌詳細
主要な著者: Guida, Valentina, Lepri, Francesca, Vijzelaar, Raymon, De Zorzi, Andrea, Versacci, Paolo, Digilio, Maria Cristina, Marino, Bruno, De Luca, Alessandro, Dallapiccola, Bruno
フォーマット: Artigo
言語:Inglês
出版事項: IOS Press 2010
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3833239/
https://ncbi.nlm.nih.gov/pubmed/20592452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/DMA-2010-0703
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