Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7217
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dc.contributor.authorSavarirayan, R.en
dc.contributor.authorThompson, E.en
dc.contributor.authorGecz, J.en
dc.date.issued2003en
dc.identifier.citationEuropean Journal of Human Genetics, 2003; 11(9):639-642en
dc.identifier.issn1018-4813en
dc.identifier.issn1476-5438en
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.en
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.subjectChromosomes, Human, X; Humans; Osteochondrodysplasias; Genetic Diseases, X-Linked; Carrier Proteins; Membrane Transport Proteins; Transcription Factors; Mutationen
dc.titleSpondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)en
dc.typeJournal articleen
dc.identifier.rmid0020030047en
dc.identifier.doi10.1038/sj.ejhg.5201025en
dc.identifier.pubid59126-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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