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RNAi Reduces Expression and Intracellular Retention of Mutant Cartilage Oligomeric Matrix Protein

Mutations in cartilage oligomeric matrix protein (COMP), a large extracellular glycoprotein expressed in musculoskeletal tissues, cause two skeletal dysplasias, pseudoachondroplasia and multiple epiphyseal dysplasia. These mutations lead to massive intracellular retention of COMP, chondrocyte death...

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Detalles Bibliográficos
Autores principales: Posey, Karen L., Liu, Peiman, Wang, Huiqiu R., Veerisetty, Alka C., Alcorn, Joseph L., Hecht, Jacqueline T.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858657/
https://www.ncbi.nlm.nih.gov/pubmed/20421976
http://dx.doi.org/10.1371/journal.pone.0010302