Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome

Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone disease Osteogenesis Imperfecta (OI). BS is caused by bi-allelic mutations in either the FKBP10 or the PLOD2 gene. PLOD2 encodes the lysyl hyd...

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發表在:J Bone Miner Res
Main Authors: Gistelinck, Charlotte, Witten, Paul Eckhard, Huysseune, Ann, Symoens, Sofie, Malfait, Fransiska, Larionova, Daria, Simoens, Pascal, Dierick, Manuel, Van Hoorebeke, Luc, De Paepe, Anne, Kwon, Ronald Y, Weis, MaryAnn, Eyre, David R, Willaert, Andy, Coucke, Paul J
格式: Artigo
語言:Inglês
出版: 2016
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5364950/
https://ncbi.nlm.nih.gov/pubmed/27541483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2977
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