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Case Report: Multiple Fractures in a Patient with Mutations of TWIST1 and TNSALP
Hypophosphatasia is a rare inherited disorder characterized by defective skeletal mineralization and low alkaline phosphatase activities in the serum. The genetic cause of hypophosphatasia is believed related to inactivating mutations in the TNSALP gene, encoding tissue-nonspecific alkaline phosphat...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer-Verlag
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2504648/ https://ncbi.nlm.nih.gov/pubmed/18219546 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11999-008-0123-9 |
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