Three Single Base Mutations in Type III Procollagen Gene That Prevent Correct RNA Splicing in Variants of Ehlers-Danlos Syndrome IV
β Scribed by MIJIN ZHAO; SIRPA KONTUSAARI; HELENA KUIVANIEMI; GERARD TROMP; CAROLYN SABOL; LEENA ALA-KOKKO; STEVEN A. KLEIN; ROGER L. LADDA; BORIS G. KOUSSEFF; DARWIN J. PROCKOP
- Book ID
- 119864243
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 114 KB
- Volume
- 580
- Category
- Article
- ISSN
- 0890-6564
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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
## 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