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...

Whakaahuatanga katoa

I tiakina i:
Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua: 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
Hōputu: Artigo
Reo:Ingarihi
I whakaputaina: 2003
Urunga tuihono: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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Ipurangi

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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