Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes.
Mutations in cartilage oligomeric matrix protein (COMP) cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED/EDM1). Because COMP exists as a homopentamer, only one mutant COMP subunit may result in an abnormal complex that is accumulated in expanded roug...
| Main Authors: | , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2007
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