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Biochemical and immunological studies of fibroblasts derived from a patient with Ehlers-Danlos Syndrome Type IV

✍ Scribed by Monique Aumailley; Thomas Krieg; Waltraud Dessau; Peter K. Müller; Rupert Timpl; Henri Bricaud

Publisher
Springer-Verlag
Year
1980
Tongue
English
Weight
976 KB
Volume
269
Category
Article
ISSN
0340-3696

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✦ Synopsis

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 showed a normal synthesis of type I procollagen and collagen but a deficiency in synthesis of type III procollagen and collagen. This could be corroborated by radioimmuno assays showing a reduction in type III procollagen by about 90%. The secretion and degradation of collagens was not altered. The results demonstrate that the molecular defect in this particular patient is due to an impairment of the mechanism controlling the gene expression for type III procollagen.

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Temperature sensitivity of aberrant RNA
Temperature sensitivity of aberrant RNA splicing with a mutation in theG+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers–Danlos syndrome type IV
✍ Yuli Wu; Helena Kuivaniemi; Gerard Tromp; Deike Strobel; Anne M. Romanic; Darwin 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 828 KB

## 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 37°C demonstrated th