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Correlation of clinical phenotype and COMP trafficking

โœ Scribed by K.L. Posey; T. Chen; E.S. Bales; J. Hecht; B. Vertel

Book ID
116729512
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
56 KB
Volume
25
Category
Article
ISSN
0945-053X

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## Abstract Mutations in cartilage oligomeric matrix protein (COMP) produce clinical phenotypes ranging from the severe end of the spectrum, pseudoachondroplasia (PSACH), which is a dwarfing condition, to a mild condition, multiple epiphyseal dysplasia (MED). Patient chondrocytes have a unique morp