Fibroblasts derived from a skin biopsy of a patient with the Ehlers-Danlos syndrome (EDS) type IV were cultured in monolayer. The amount of collagen synthesized during a 24-h pulse was not different from that found with normal fibroblasts. Chromatographic procedures and immunofluorescence staining s
Connective tissue metabolism in culture fibroblasts of a patient with Ehlers-Danlos syndrome type I
β Scribed by Hiroshi Shinkai; Osamu Hirabayashi; Akiharu Tamaki; Shuho Matsubayashi; Shigeharu Sano
- Publisher
- Springer-Verlag
- Year
- 1976
- Tongue
- English
- Weight
- 554 KB
- Volume
- 257
- Category
- Article
- ISSN
- 0340-3696
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## 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
We report the first deletion mutation and the first splicing defect in the lysyl hydroxylase gene in a compound heterozygote patient with Ehlers-Danlos syndrome type VI with markedly reduced lysyl hydroxylase activity. Northern analysis of the RNA isolated from skin fibroblasts of the patient demons