Title : Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia.

Pub. Date : 2001 Nov

PMID : 11691584






2 Functional Relationships(s)
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1 We have identified a novel missense mutation which substitutes a glycine for an aspartic acid residue in the thrombospondin (TSP) type 3 calcium-binding domain of COMP in a patient diagnosed with PSACH. Glycine thrombospondin 1 Homo sapiens
2 We have identified a novel missense mutation which substitutes a glycine for an aspartic acid residue in the thrombospondin (TSP) type 3 calcium-binding domain of COMP in a patient diagnosed with PSACH. Glycine thrombospondin 1 Homo sapiens