Učitavanje...
Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management
Hypophosphatasia (HPP) is an inherited metabolic condition caused by pathogenic mutations in the ALPL gene. This leads to deficiency of tissue non-specific alkaline phosphatase (TNSALP), resulting in decreased mineralization of the bones and/or teeth and multi-systemic complications. Inheritance may...
Spremljeno u:
| Izdano u: | Mol Genet Metab Rep |
|---|---|
| Glavni autori: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2020
|
| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7578550/ https://ncbi.nlm.nih.gov/pubmed/33101980 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100661 |
| Oznake: |
Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!
|