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Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations
BACKGROUND: C‐type natriuretic peptide (CNP, NPPC) and its receptor, natriuretic peptide receptor‐B (NPR‐B, NPR2), are critical for endochondral ossification. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth. This study was performed to identify the NPR2 mutations in...
שמור ב:
| הוצא לאור ב: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
John Wiley and Sons Inc.
2020
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7057090/ https://ncbi.nlm.nih.gov/pubmed/31960617 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1146 |
| תגים: |
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