Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia
| dc.contributor.author | Takeichi, T | en_US |
| dc.contributor.author | Torrelo, A | en_US |
| dc.contributor.author | Lee, JYW | en_US |
| dc.contributor.author | Ohno, Y | en_US |
| dc.contributor.author | Luisa Lozano, M | en_US |
| dc.contributor.author | Kihara, A | en_US |
| dc.contributor.author | Liu, L | en_US |
| dc.contributor.author | Yasuda, Y | en_US |
| dc.contributor.author | Ishikawa, J | en_US |
| dc.contributor.author | Murase, T | en_US |
| dc.contributor.author | Belen Rodrigo, A | en_US |
| dc.contributor.author | Fernandez-Crehuet, P | en_US |
| dc.contributor.author | Toi, Y | en_US |
| dc.contributor.author | Mellerio, J | en_US |
| dc.contributor.author | Rivera, J | en_US |
| dc.contributor.author | Vicente, V | en_US |
| dc.contributor.author | Kelsell, DP | en_US |
| dc.contributor.author | Nishimura, Y | en_US |
| dc.contributor.author | Okuno, Y | en_US |
| dc.contributor.author | Kojima, D | en_US |
| dc.contributor.author | Ogawa, Y | en_US |
| dc.contributor.author | Sugiura, K | en_US |
| dc.contributor.author | Simpson, MA | en_US |
| dc.contributor.author | McLean, WHI | en_US |
| dc.contributor.author | Akiyama, M | en_US |
| dc.contributor.author | McGrath, JA | en_US |
| dc.date.accessioned | 2017-10-19T14:43:29Z | |
| dc.date.available | 2017-06-28 | en_US |
| dc.date.issued | 2017-11 | en_US |
| dc.date.submitted | 2017-10-12T11:01:52.333Z | |
| dc.identifier.issn | 0022-202X | en_US |
| dc.identifier.uri | http://qmro.qmul.ac.uk/xmlui/handle/123456789/28184 | |
| dc.format.extent | 2344 - 2353 | en_US |
| dc.language.iso | en | en_US |
| dc.relation.ispartof | JOURNAL OF INVESTIGATIVE DERMATOLOGY | en_US |
| dc.rights | CC-BY | |
| dc.title | Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia | en_US |
| dc.type | Article | |
| dc.rights.holder | © 2017 The Authors. | |
| dc.identifier.doi | 10.1016/j.jid.2017.06.028 | en_US |
| pubs.author-url | http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000413289900021&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6a | en_US |
| pubs.issue | 11 | en_US |
| pubs.notes | Not known | en_US |
| pubs.publication-status | Published | en_US |
| pubs.volume | 137 | en_US |
