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Six ALPL gene variants in five children with hypophosphatasia
BACKGROUND: Hypophosphatasia (HPP) is a rare hereditary disorder characterized by defective bone and tooth mineralization caused by mutations in the alkaline phosphatase (ALPL) gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Here we performed clinical and molecular studies on 5 HPP c...
Tallennettuna:
| Julkaisussa: | Ann Transl Med |
|---|---|
| Päätekijät: | , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
AME Publishing Company
2021
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8184488/ https://ncbi.nlm.nih.gov/pubmed/34164522 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm-21-2096 |
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