SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts
| dc.contributor.author | Stattin, Eva-Lena | |
| dc.contributor.author | Henning, Petra | |
| dc.contributor.author | Klar, Joakim | |
| dc.contributor.author | McDermott, Emma | |
| dc.contributor.author | Stecksen-Blicks, Christina | |
| dc.contributor.author | Sandström, Per-Erik | |
| dc.contributor.author | Kellgren, Therese G. | |
| dc.contributor.author | Rydén, Patrik | |
| dc.contributor.author | Hallmans, Göran | |
| dc.contributor.author | Lönnerholm, Torsten | |
| dc.contributor.author | Ameur, Adam | |
| dc.contributor.author | Helfrich, Miep H. | |
| dc.contributor.author | Coxon, Fraser P. | |
| dc.contributor.author | Dahl, Niklas | |
| dc.contributor.author | Wikström, Johan | |
| dc.contributor.author | Lerner, Ulf H. | |
| dc.contributor.institution | University of Aberdeen.Applied Medicine | en |
| dc.contributor.institution | University of Aberdeen.Medical Sciences | en |
| dc.date.accessioned | 2017-06-29T11:00:12Z | |
| dc.date.available | 2017-06-29T11:00:12Z | |
| dc.date.issued | 2017-06-07 | |
| dc.description | Acknowledgements We sincerely thank the patients and family members who participated in this study. We would also like to thank Stefan Esher, Umeå University, for help with genealogy, and Anna Westerlund for excellent technical assistance. This work was supported by grants from the FOU, at the Umeå university hospital, and the Medical Faculty at Umeå University. The work at University of Gothenburg was supported by grants from The Swedish Research Council, the Swedish Rheumatism Association, the Royal 80-Year Fund of King Gustav V, ALF/LUA research grant from Sahlgrenska University Hospital in Gothenburg and the Lundberg Foundation. The work at the University of Gothenburg and the University of Aberdeen was supported by Euroclast, a Marie Curie FP7-People-2013-ITN: # 607446. | en |
| dc.description.status | Peer reviewed | en |
| dc.format.extent | 16 | |
| dc.format.extent | 5381267 | |
| dc.identifier | 101983114 | |
| dc.identifier | ffc04f9a-0efa-4790-b965-18e2ea04e3ff | |
| dc.identifier | 28592808 | |
| dc.identifier | 85020407196 | |
| dc.identifier.citation | Stattin, E-L, Henning, P, Klar, J, McDermott, E, Stecksen-Blicks, C, Sandström, P-E, Kellgren, T G, Rydén, P, Hallmans, G, Lönnerholm, T, Ameur, A, Helfrich, M H, Coxon, F P, Dahl, N, Wikström, J & Lerner, U H 2017, 'SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts', Scientific Reports, vol. 7, 3012, pp. 1-16. https://doi.org/10.1038/s41598-017-02533-2 | en |
| dc.identifier.doi | 10.1038/s41598-017-02533-2 | |
| dc.identifier.issn | 2045-2322 | |
| dc.identifier.other | PubMedCentral: PMC5462793 | |
| dc.identifier.uri | http://hdl.handle.net/2164/8887 | |
| dc.identifier.vol | 7 | en |
| dc.language.iso | eng | |
| dc.relation.ispartof | Scientific Reports | en |
| dc.subject | R Medicine (General) | en |
| dc.subject.lcc | R1 | en |
| dc.title | SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts | en |
| dc.type | Journal article | en |