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Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/7217
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dc.contributor.authorSavarirayan, R.-
dc.contributor.authorThompson, E.-
dc.contributor.authorGecz, J.-
dc.date.issued2003-
dc.identifier.citationEuropean Journal of Human Genetics, 2003; 11(9):639-642-
dc.identifier.issn1018-4813-
dc.identifier.issn1476-5438-
dc.identifier.urihttp://hdl.handle.net/2440/7217-
dc.description.abstractSpondyloepiphyseal dysplasia tarda (SEDL) is a radiologically distinct, X-chromosome linked primary skeletal dysplasia characterised by disproportionate short-trunked short stature, dysplasia of the large joints (hip) and flattened thoracic and lumber vertebral bodies. Molecular basis for SEDL has been elucidated by the identification of various mutations (currently >30) in the SEDL gene from Xp22 region. The function of the SEDL protein is not known although it is speculated that it may participate in the ER-to-Golgi transport as part of a novel highly conserved multiprotein TRAPP complex.-
dc.language.isoen-
dc.publisherNature Publishing Group-
dc.subjectChromosomes, Human, X-
dc.subjectHumans-
dc.subjectOsteochondrodysplasias-
dc.subjectGenetic Diseases, X-Linked-
dc.subjectCarrier Proteins-
dc.subjectMembrane Transport Proteins-
dc.subjectTranscription Factors-
dc.subjectMutation-
dc.titleSpondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)-
dc.typeJournal article-
dc.identifier.doi10.1038/sj.ejhg.5201025-
pubs.publication-statusPublished-
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]-
Appears in Collections:Aurora harvest 5
Paediatrics publications

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