Please be on the look out for
Ambry Representatives at:
San Antonio Breast Cancer Symposium
Henry B. Gonzalez Convention Center
San Antonio, Texas
12/9/14 - 12/13/14
Collagen, type III, alpha-1
COL3A1 encodes for fibrillar-forming collagen, type III. This is made up of three alpha-1 chains and is a key component of extracellular matrix in many internal organs and skin. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. Single point mutations, exon deletions and exon-skipping splice site mutations have been reported. No genotype/phenotype correlations have been reported to date with these various mutation types.