Concepedia

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

Michael D. Briggs, Geert Mortier, William G. Cole, Lily King, Steven S. Golik, Jacky Bonaventure, Lieve Nuytinck, Anne De Paepe, Jules G. Leroy, Leslie G. Biesecker,

The American Journal of Human Genetics · 1998 · 184 citations · 27 references

DOIFull text

Open access

Concepts

References

27

Cartilage matrix proteins. An acidic oligomeric protein (COMP) detected only in cartilage.

Erik Hedbom, Per Antonsson, Anders Hjerpe et al. · Journal of Biological Chemistry · 1992 · 527 citations · Full text

, , +16

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Michael D. Briggs, Susan M.G. Hoffman, Lily King et al. · Nature Genetics · 1995 · 519 citations

, , +13

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

Jacqueline T. Hecht, Laura D. Nelson, Eric Crowder et al. · Nature Genetics · 1995 · 402 citations

, , +8

Integrin-associated Protein Is a Receptor for the C-terminal Domain of Thrombospondin

Ai-Guo Gao, Frederik P. Lindberg, Mary Beth Finn et al. · Journal of Biological Chemistry · 1996 · 399 citations · Full text

, , +14

COMP (cartilage oligomeric matrix protein) is structurally related to the thrombospondins.

Å Oldberg, Per Antonsson, Karin Lindblom et al. · Journal of Biological Chemistry · 1992 · 326 citations · Full text

, , +9