bibliographicCitation |
Singleton AC, Mitchell AL, Byers PH, Potter KA, Pace JM. Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1. Hum Mutat. 2005 Apr;25(4):348–52. doi: 10.1002/humu.20152. PMID: 15776436. |