𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A Homozygous Frameshift Mutation in the Pro-α2(I) Collagen COOH-Propeptide Results in Osteogenesis Imperfecta

✍ Scribed by JEANNE C. MYERS; LEON A. DICKSON; F. MICHAEL POPE; VEIKKO R. KORHONEN; ALAN NICHOLLS; DARWIN J. PROCKOP; TAINA PIHLAJANIEMI


Book ID
118722953
Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
174 KB
Volume
460
Category
Article
ISSN
0890-6564

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutation in the carboxy-terminal propept
✍ Jane E. Oliver; Elizabeth M. Thompson; F. Michael Pope; Alan C. Nicholls 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 845 KB

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