Article

Role of sedlin, a TRAPP complex subunit, in membrane trafficking and in the pathogenesis of Spondyleopyphiseal Dysplasia Tarda

2011-01-01

Abstract excerpt

Genetic defects occurring in the sedlin gene, a conserved component of TRAPP complex, cause Spondyloepiphyseal Dysplasia Tarda (SEDT), a rare progressive condition characterised by impaired chondrogenesis resulting in short stature, flattening of the vertebrae, and premature osteoarthritis. The role of sedlin in the pathogenesis of SEDT disease so far is still unknown. Prompted by the consideration that sedlin is...

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Literature Corpus work: 61cf37fa-6663-51bc-8680-1e9e0a554180
DOI: 10.21954/ou.ro.0000d4f0

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