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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Detalles Bibliográficos
Autores principales: Gibson, Beth G., Briggs, Michael D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4924316/
https://www.ncbi.nlm.nih.gov/pubmed/27353333
http://dx.doi.org/10.1186/s13023-016-0459-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4924316/
https://www.ncbi.nlm.nih.gov/pubmed/27353333
http://dx.doi.org/10.1186/s13023-016-0459-2

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