| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5891390 | Bone | 2013 | 4 Pages |
Abstract
⺠Mutation screening of sFRP1 and 4 in patients with craniotubular hyperostosis. ⺠Several known polymorphisms were found in the screening of sFRP4. ⺠One unknown heterozygous coding variant, p.Trp131Arg/â, was identified in sFRP1. ⺠The p.Trp131Arg/â change was found in a patient with endosteal hyperostosis. ⺠Prediction programs expect that the variant does not affect the protein function.
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Authors
Eveline Boudin, Elke Piters, Igor Fijalkowski, Gino Stevenheydens, Ellen Steenackers, Outi Kuismin, Jukka S. Moilanen, Geert Mortier, Wim Van Hul,