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SUN-LB089 Mild Form of Childhood Hypophosphatasia: A Novel Mutation
Introduction: Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder, caused by loss-of-function mutations within the gene that encodes the tissue nonspecific alkaline phosphatase (TNSALP). Extracellular accumulation of TNSALP natural substrates leads to inhibition of teeth and bone mine...
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| Publicado no: | J Endocr Soc |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Endocrine Society
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6553031/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-LB089 |
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