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Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.

Hayward C., Rae A.L., Porteous M.E.M., Logie L.J., Brock L.J.

Hum. Mol. Genet. 3:373-375(1994) [PubMed] [Europe PMC]