Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leucocytes of the asymptomatic and mosaic mother - Kontusaari, S; Tromp, G; Kuivaniemi, H; Stolle, C; Pope, M; Prockop, DJ (Am J Hum Genet, 1992)