Two cases of osteogenesis imperfecta with blue sclerotics in natives of India

Substitution of arginine for glycine at

Substitution of arginine for glycine at position 154 of the α1 chain of type I collagen in a variant of osteogenesis imperfecta: Comparison to previous cases with the same mutation

✍ Zhuang, Jiapiao; Tromp, Gerard; Kuivaniemi, Helena; Castells, Salvador; Prockop, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 1 views

A substitution of arginine for glycine at amino acid position 154 of the al(1) collagen chain was found in a father and his three children. The phenotype of the patients includes manifestations of types I and IIUIV osteogenesis imperfecta, but appears to be milder than that of the previously describ