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The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review

BACKGROUND: Proteoglycans are large and structurally complex macromolecules which can be found in abundancy in the extracellular matrix and on the surface of all animal cells. Mutations in the genes encoding the enzymes responsible for the formation of the tetrasaccharide linker region between the p...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Colman, Marlies, Van Damme, Tim, Steichen-Gersdorf, Elisabeth, Laccone, Franco, Nampoothiri, Sheela, Syx, Delfien, Guillemyn, Brecht, Symoens, Sofie, Malfait, Fransiska
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6567438/
https://ncbi.nlm.nih.gov/pubmed/31196143
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1110-9
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