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A novel missense mutation in the ALPL gene causes dysfunction of the protein
Hypophosphatasia (HP) is a rare genetic disease caused by mutation in the alkaline phosphatase, liver/bone/kidney (ALPL) gene with highly variable clinical manifestations. Efforts have been made to collect cases with novel mutations and to examine how a missense mutation affects ALPL protein functio...
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| Vydáno v: | Mol Med Rep |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
D.A. Spandidos
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5482188/ https://ncbi.nlm.nih.gov/pubmed/28586049 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2017.6668 |
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