𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Gly511 to Ser substitution in theCOL1A1gene in osteogenesis imperfecta type III patient with increased turnover of collagen

✍ Scribed by Anna Galicka; Sławomir Wołczyński; Andrzej Gindzienński; Arkadiusz Surażyński; Jerzy Pałka


Book ID
111539999
Publisher
Springer
Year
2003
Tongue
English
Weight
110 KB
Volume
248
Category
Article
ISSN
0300-8177

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


An α1 II Gly913 to Cys substitution prev
✍ Mundlos, Stefan; Chan, Danny; McGill, Jim; Bateman, John F. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 1 views

A heterozygous mutation in the COL2A1 gene was identified in a patient with hypochondrogenesis. The mutation was a single nucleotide transition of G3285T that resulted in an amino acid substitution of Cys for Gly9I3 in the al(I1) chain of type I1 collagen. This amino acid change disrupted the obliga