𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-α1(V) chains results in the gravis form of the ehlers-danlos syndrome (Type 1)

✍ Scribed by R.J. Wenstrup; G. Langland; M.C. Willing; V. D'Souza; W.G. Cole


Book ID
117640421
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
90 KB
Volume
15
Category
Article
ISSN
0945-053X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A novel G499D substitution in the α1(III
✍ Joel McGrory; Teresa Costa; William G. Cole 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB 👁 1 views

Cmvc fur the Srudy of HcriTitabIe Cunnectiuc Tissue Discnrcs, Division of Orthoj~&~cs (1. M., W. G. C.) ; Division of Clinical Cmetic5 (T. C. ), Hospitnl fin Sick Childrm, Turonm, Ontnsio, C a d M5G I X8; Fax: 4 16-8 13-64 I4 Cmnmunicntld b~ Charles R. Sn'um

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