Idiopathic Hyperphosphatasia and <i>TNFRSF11B</i> Mutations: Relationships Between Phenotype and Genotype

Idiopathic Hyperphosphatasia and <i>TNFRSF11B</i> Mutations: Relationships Between Phenotype and Genotype

Abstract Homozygous mutations in TNFRSF11B, the gene encoding osteoprotegerin, were found in affected members from six of nine families with idiopathic hyperphosphatasia. The severity of the phenotype was related to the predicted effects of the mutations on osteoprotegerin function. Introduction: Id...

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Bibliografiska uppgifter
Huvudupphovsmän: Belinda Chong, Madhuri Hegde, Matthew Fawkner, Scott Simonet, Hamilton Cassinelli, Mahmut Çöker, John А. Kanis, J. Seidel, Cristina Tau, Beyhan Tüysüz, Bilgin Yüksel, Donald R. Love, Tim Cundy
Materialtyp: Artigo
Språk:engelska
Publicerad: 2003
Länkar:https://doi.org/10.1359/jbmr.2003.18.12.2095
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1359/jbmr.2003.18.12.2095
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https://doi.org/10.1359/jbmr.2003.18.12.2095
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1359/jbmr.2003.18.12.2095

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