Jagged1 Mutations in Patients with Tetralogy of Fallot or Pulmonic Stenosis

Mutations in the Notch pathway ligand Jagged1 (JAG1) cause Alagille syndrome (AGS), as well as cardiac defects in seemingly non-syndromic, individuals. To estimate the frequency of JAG1 mutations in cases with right-sided cardiac defects not otherwise diagnosed with AGS, we screened 94 cases with te...

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Detaylı Bibliyografya
Asıl Yazarlar: Bauer, Robert C., Laney, Ayanna O., Smith, Rosemarie, Gerfen, Jennifer, Morrissette, Jennifer J.D., Woyciechowski, Stacy, Garbarini, Jennifer, Loomes, Kathleen M., Krantz, Ian D., Urban, Zsolt, Gelb, Bruce D., Goldmuntz, Elizabeth, Spinner, Nancy B.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2010
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2914103/
https://ncbi.nlm.nih.gov/pubmed/20437614
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21231
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