Mutations in the Cartilage Oligomeric Matrix Protein (COMP) Gene in Pseudoachondroplasia and Multiple Epiphyseal Dysplasiaa
- 1 June 1996
- journal article
- review article
- Published by Wiley in Annals of the New York Academy of Sciences
- Vol. 785 (1), 188-194
- https://doi.org/10.1111/j.1749-6632.1996.tb56258.x
Abstract
No abstract availableThis publication has 11 references indexed in Scilit:
- Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein geneNature Genetics, 1995
- Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasiaNature Genetics, 1995
- Characterization of Human and Mouse Cartilage Oligomeric Matrix ProteinGenomics, 1994
- A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrixHuman Genetics, 1994
- Linkage of typical pseudoachondroplasia to chromosome 19Genomics, 1993
- Genetic linkage of mild pseudoachondroplasia (PSACH) to markersin the pericentromeric region of chromosome 19Genomics, 1993
- Multiple epiphyseal dysplasia, Fairbank type: Morphologic and biochemical study of cartilageAmerican Journal of Medical Genetics, 1993
- International classification of osteochondrodysplasiasAmerican Journal of Medical Genetics, 1992
- The structure of human thrombospondin, an adhesive glycoprotein with multiple calcium-binding sites and homologies with several different proteins.The Journal of cell biology, 1986
- The biochemical defect of pseudoachondroplasiaEuropean Journal of Pediatrics, 1982