Richards A.J.,1992a
Richards A.J., Ward P.N., Narcisi P., Nicholls A.C., Lloyd J.C., Pope F.M. A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV: an unaffected family member is mosaic for the mutation. - Hum.Genet., 1992, v. 89, p. 414-418.