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A Novel De Novo Heterozygous ALPL Nonsense Mutation Associated with Adult Hypophosphatasia
SUMMARY: Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by genetic alterations of the alkaline phosphatase (ALPL) gene, encoding the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). The purpose of this study was to perform a clinical and molecular investigation in a...
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| Pubblicato in: | Osteoporos Int |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8214176/ https://ncbi.nlm.nih.gov/pubmed/32572521 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00198-020-05490-1 |
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