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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
Soggetti:
Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi