Article
Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.
The Journal of rheumatology - 1 Feb 1995
Bleasel J F, Bisagni-Faure A, Holderbaum D, Vacher-Lavenu M C, Haqqi T M, Moskowitz R W, Menkes C J
Abstract excerpt
OBJECTIVE: To define the clinical, pathological and molecular genetic characteristics of a family with mild spondyloepiphyseal dysplasia (SED) and precocious osteoarthritis. METHODS: The proband was a 46-year-old man with precocious generalized OA, tall stature, mild chondrodysplasia and moderate...
Topics
- Adult
- Alleles
- Base Sequence
- Body Height
- Cartilage, Articular
- Exons
- Female
- Genes
- Humans
- Male
- Middle Aged
- Molecular Probes
- Molecular Sequence Data
- Osteoarthritis
- Osteochondrodysplasias
- Point Mutation
- Procollagen
- Radiography