Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV
โ Scribed by Gerard Tromp; Anne De Paepe; Lieve Nuytinck; Swarna Madhatheri; Helena Kuivaniemi
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 234 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1059-7794
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cDNA encoding the C-terminal domain (nt2283 to 3714) of type 111 collagen was amplified by PCR in five overlapping products and examined for mutations in 13 patients with Ehlers-Danlos syndrome type 1V (EDS 1V) with uncharacterised lesions and in five control patients with known single base mutation