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Please use this identifier to cite or link to this item:
http://bura.brunel.ac.uk/handle/2438/22450Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Rooryck, C | - |
| dc.contributor.author | Diaz-Font, A | - |
| dc.contributor.author | Osborn, DPS | - |
| dc.contributor.author | Chabchoub, E | - |
| dc.contributor.author | Hernandez-Hernandez, V | - |
| dc.contributor.author | Shamseldin, H | - |
| dc.contributor.author | Kenny, J | - |
| dc.contributor.author | Waters, A | - |
| dc.contributor.author | Jenkins, D | - |
| dc.contributor.author | Kaissi, AA | - |
| dc.contributor.author | Leal, GF | - |
| dc.contributor.author | Dallapiccola, B | - |
| dc.contributor.author | Carnevale, F | - |
| dc.contributor.author | Bitner-Glindzicz, M | - |
| dc.contributor.author | Lees, M | - |
| dc.contributor.author | Hennekam, R | - |
| dc.contributor.author | Stanier, P | - |
| dc.contributor.author | Burns, AJ | - |
| dc.contributor.author | Peeters, H | - |
| dc.contributor.author | Alkuraya, FS | - |
| dc.contributor.author | Beales, PL | - |
| dc.date.accessioned | 2021-03-16T11:04:36Z | - |
| dc.date.available | 2011-03 | - |
| dc.date.available | 2021-03-16T11:04:36Z | - |
| dc.date.issued | 2011 | - |
| dc.identifier.citation | Nature Genetics, 2011, 43 (3), pp. 197 - 203 | en_US |
| dc.identifier.issn | 1061-4036 | - |
| dc.identifier.issn | http://dx.doi.org/10.1038/ng.757 | - |
| dc.identifier.issn | 1546-1718 | - |
| dc.identifier.uri | http://bura.brunel.ac.uk/handle/2438/22450 | - |
| dc.description | Published version available at https://www.nature.com/articles/ng.757#Ack1 | en_US |
| dc.description.sponsorship | This work was supported in part by grants from NEWLIFE (P.L.B., A.D.-F. and C.R.), the Wellcome Trust (P.L.B.), Dubai Harvard Foundation for Medical Research (F.S.A.), the University Hospital of Bordeaux (C.R.), the UK Medical Research Council (A.W.) and EU-FP7 (201804-EUCILIA) (V.H.-H., D.J. and D.P.S.O.). This research was supported by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London (P.L.B.). P.L.B. is a Wellcome Trust Senior Research Fellow. | en_US |
| dc.format.extent | 197 - 203 | - |
| dc.language | en | - |
| dc.language.iso | en | en_US |
| dc.publisher | Springer Science and Business Media LLC | en_US |
| dc.title | Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome | en_US |
| dc.type | Article | en_US |
| dc.identifier.doi | http://dx.doi.org/10.1038/ng.757 | - |
| dc.relation.isPartOf | Nature Genetics | - |
| pubs.issue | 3 | - |
| pubs.publication-status | Published | - |
| pubs.volume | 43 | - |
| dc.identifier.eissn | 1546-1718 | - |
| Appears in Collections: | Dept of Life Sciences Research Papers | |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| FullText.pdf | 2.4 MB | Adobe PDF | View/Open |
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