Spondyloepiphyseal dysplasia in a cape town family: Linkage with the gene for type II collagen (COL2A1)
- 15 July 1992
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 43 (5) , 833-838
- https://doi.org/10.1002/ajmg.1320430516
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagenAmerican Journal of Medical Genetics, 1990
- Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.Proceedings of the National Academy of Sciences, 1990
- Genetic Linkage of a Polymorphism in the Type II Procollagen Gene (COL2A1) to Primary Osteoarthritis Associated with Mild ChondrodysplasiaNew England Journal of Medicine, 1990
- Identification of the Molecular Defect in a Family with Spondyloepiphyseal DysplasiaScience, 1989
- PREDISPOSITION TO FAMILIAL OSTEOARTHROSIS LINKED TO TYPE II COLLAGEN GENEThe Lancet, 1989
- Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.Journal of Medical Genetics, 1988
- The Stickler syndrome: Evidence for close linkage to the structural gene for type II collagenGenomics, 1987
- Cartilage Collagen Analysis in the ChondrodystrophiesCollagen and Related Research, 1985
- Report of the committee on methods of linkage analysis and reportingCytogenetic and Genome Research, 1985
- A technique for radiolabeling DNA restriction endonuclease fragments to high specific activityAnalytical Biochemistry, 1984