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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

✍ Scribed by Zhuang, Jiapiao; Tromp, Gerard; Kuivaniemi, Helena; Castells, Salvador; Prockop, Darwin J.


Book ID
122879895
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
81 KB
Volume
14
Category
Article
ISSN
0945-053X

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Substitution of arginine for glycine at
✍ 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

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A young girl presented with severe type 111 osteogenesis imperfecta; her otherwise healthy mother also had a mild connective tissue disorder with blue sclerae and recurrent joint dislocations. Skin fibroblast cultures from the child produced both normal and post-translationally overmodified type I c