Mild arthrogryposis, renal dysfunction and cholestasis syndrome caused by a novel splice-site mutation in VPS33B
dc.contributor.author | Ahmed, A | en_US |
dc.contributor.author | McGinty, L | en_US |
dc.contributor.author | Blaydon, D | en_US |
dc.contributor.author | Kelsell, DP | en_US |
dc.contributor.author | O'Toole, EA | en_US |
dc.contributor.author | De Silva, B | en_US |
dc.date.accessioned | 2016-10-24T14:11:43Z | |
dc.date.issued | 2016-07 | en_US |
dc.date.submitted | 2016-10-11T10:50:38.112Z | |
dc.identifier.issn | 0007-0963 | en_US |
dc.identifier.uri | http://qmro.qmul.ac.uk/xmlui/handle/123456789/16012 | |
dc.format.extent | 81 - 82 | en_US |
dc.title | Mild arthrogryposis, renal dysfunction and cholestasis syndrome caused by a novel splice-site mutation in VPS33B | en_US |
dc.type | Conference Proceeding | |
pubs.author-url | http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000379650200154&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6a | en_US |
pubs.notes | Not known | en_US |
pubs.publication-status | Published | en_US |
pubs.volume | 175 | en_US |