Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

Atrioventricular septal defects (AVSD) are common cardiovascular malformations, occurring in 3.5/10,000 births. Although frequently associated with trisomy 21, autosomal dominant AVSD has also been described. Recently we identified and characterized the cell adhesion molecule CRELD1 (previously know...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Robinson, Susan W., Morris, Cynthia D., Goldmuntz, Elizabeth, Reller, Mark D., Jones, Melanie A., Steiner, Robert D., Maslen, Cheryl L.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The American Society of Human Genetics 2003
Pynciau:
Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180336/
https://ncbi.nlm.nih.gov/pubmed/12632326
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