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Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.

Piersall L.D., Dietz H.C., Hall B.D., Cadle R.G., Pyeritz R.E., Francomano C.A., McIntosh I.

Hum. Mol. Genet. 3:1013-1014(1994) [PubMed] [Europe PMC]