Osteoarthritis in Children Associated with a Mutation in the Type II Procollagen Gene (COL2A1)
β Scribed by Richard J. Mier; Daniel Holderbaum; Rebecca Ferguson; Roland Moskowitz
- Book ID
- 115639922
- Publisher
- Elsevier Science
- Year
- 2001
- Tongue
- English
- Weight
- 734 KB
- Volume
- 74
- Category
- Article
- ISSN
- 1096-7192
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Osteoarthrosis represents a very common disease with heterogeneous etiology. In some pedigrees linkage of the condition with the type I1 collagen gene (COUAI) has been established, but information on the underlying gene defect is still incomplete as only one mutation causing this phenotype has been
Objective. To investigate the occurrence and clinical correlation of the arg519-to-cys mutation in the type 11 procollagen gene in patients with osteoarthritis (OA). Methods. Sixty-six subjects from 7 families with a strong family history of generalized OA and 13 patients with erosive OA were evalu
The COL2A1 gene was assayed for mutations in genomic DNA from 12 patients with achondrogenesis type II/hypochondrogenesis. The exons and flanking sequences of the 54 exons in the COL2A1 gene were amplified by a series of specific primers using PCR. The PCR products were scanned for mutations by conf