लोड हो रहा है...
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases
The large chondroitin sulphated proteoglycan aggrecan (ACAN) is the most abundant non-collagenous protein in cartilage and is essential for its structure and function. Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including spondyloepimetaphyseal dysplasia...
में बचाया:
| में प्रकाशित: | Orphanet J Rare Dis |
|---|---|
| मुख्य लेखकों: | , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2016
|
| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4924316/ https://ncbi.nlm.nih.gov/pubmed/27353333 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0459-2 |
| टैग : |
टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!
|