| |
| | [No title] (Site not responding. Last check: 2007-10-20) |
 | | Kontusaari, S.; Tromp, G.; Kuivaniemi, H.; Stolle, C.; Pope, F. M.; Prockop, D. Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. |
 | | Kuivaniemi, H.; Kontusaari, S.; Tromp, G.; Zhao, M.; Sabol, C.; Prockop, D. Identical G(+1)-to-A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos Syndrome IV: an explanation for exon skipping with some mutations and not others. |
 | | Kuivaniemi, H.; Tromp, G.; Prockop, D. Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. |
| zeta.embl-heidelberg.de:8000 /srs5bin/cgi-bin/wgetz?-e+[omim-id:120180] (7476 words) |
|