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
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
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