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Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders
CONTEXT: Mutations in alkaline phosphatase (AlkP), liver/bone/kidney (ALPL), which encodes tissue-nonspecific isozyme AlkP, cause hypophosphatasia (HPP). HPP is suspected by a low-serum AlkP. We hypothesized that some patients with bone or dental disease have undiagnosed HPP, caused by ALPL variants...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Clin Endocrinol Metab |
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| Κύριοι συγγραφείς: | , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Endocrine Society
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6456921/ https://ncbi.nlm.nih.gov/pubmed/29659871 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2017-02676 |
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