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ACAN mutations as a cause of familial short stature
Aggrecan, encoded by ACAN, is a major proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. Aggrecan provides the hydrated gel structure important for the load-bearing properties of joints and plays a key role in cartilage and bone morphogenesis. At least 25...
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| Vydáno v: | Clin Pediatr Endocrinol |
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| Hlavní autor: | |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
The Japanese Society for Pediatric Endocrinology
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5537209/ https://ncbi.nlm.nih.gov/pubmed/28804204 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.26.119 |
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