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A human skeletal overgrowth mutation increases maximal velocity and blocks desensitization of guanylyl cyclase-B()
C-type natriuretic peptide (CNP) increases long bone growth by stimulating guanylyl cyclase (GC)-B/NPR-B/NPR2. Recently, a Val to Met missense mutation at position 883 in the catalytic domain of GC-B was identified in humans with increased blood cGMP levels that cause abnormally long bones. Here, we...
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| Veröffentlicht in: | Bone |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2013
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4413012/ https://ncbi.nlm.nih.gov/pubmed/23827346 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2013.06.024 |
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