𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of Ito

✍ Scribed by Toriello, Helga V.; Glover, Thomas W.; Takahara, Kazuhiko; Byers, Peter H.; Miller, Diane E.; Higgins, James V.; Greenspan, Daniel S.


Book ID
109916504
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
591 KB
Volume
13
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Exclusion of COL1A1, COL1A2, and COL3A1
✍ Boris P. Sokolov; Alexander N. Prytkov; Gerard Tromp; Robert G. Knowlton; Darwin 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 580 KB

Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations sugg