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Dental defects in the primary dentition associated with hypophosphatasia from biallelic ALPL mutations
ALPL encodes tissue-nonspecific alkaline phosphatase (TNAP), an enzyme expressed in bone, teeth, liver, and kidney. ALPL loss-of-function mutations cause hypophosphatasia (HPP), an inborn error-of-metabolism that produces skeletal and dental mineralization defects. Case reports describe widely varyi...
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| Publicado no: | Bone |
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| Main Authors: | , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7769999/ https://ncbi.nlm.nih.gov/pubmed/33160095 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2020.115732 |
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