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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...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
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| Assuntos: | |
| Acesso em linha: | 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 |
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