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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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha: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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