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Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia
Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase (ALP) activity. ALPL, the only gene related with HPP, encodes tissue non-specific ALP (TNSALP). Few studies were carried out in ALPL gene mutatio...
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| Publicat a: | Biosci Rep |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Portland Press Ltd.
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6131208/ https://ncbi.nlm.nih.gov/pubmed/29724887 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20171377 |
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