A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV
β Scribed by John F. Bateman; Angelo A. Chiodo; Yi Ma Weng; Danny Chan; Eric Haan
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 446 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
π 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
## Communicated by k e r n Peltonen A single-base mutation in intron 37 of the gene for type 111 procollagen (COL3A1) was found in a proband with the type IV variant of Ehlers-Danlos syndrome. Probeeprotection experiments with S 1 nuclease and RNA from fibroblasts incubated at 37Β°C demonstrated th
## Ehlers-Danlos syndrome (EDS) type IV is an autosomal dominant connective tissue disorder. Early morbidity and mortality results from rupture of vessels and internal organs. A large kindred with EDS type IV was studied clinically, and the biochemical defects and underlying mutation in the COL3A1