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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P). MBTPS2 missense mutations in two independent kindreds with moderate/severe OI cause substitutions at highly conse...
שמור ב:
| הוצא לאור ב: | Nat Commun |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Nature Publishing Group
2016
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4935805/ https://ncbi.nlm.nih.gov/pubmed/27380894 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms11920 |
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