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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
Singleton, Annie C; Mitchell, Anna L; Byers, Peter H; Potter, Kathleen A; Pace, James M.
Human Mutation; Hoboken Vol. 25, Iss. 4, (Apr 2005): 348-52.
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