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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Detalles Bibliográficos
Autores principales: Colman, Marlies, Van Damme, Tim, Steichen-Gersdorf, Elisabeth, Laccone, Franco, Nampoothiri, Sheela, Syx, Delfien, Guillemyn, Brecht, Symoens, Sofie, Malfait, Fransiska
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567438/
https://www.ncbi.nlm.nih.gov/pubmed/31196143
http://dx.doi.org/10.1186/s13023-019-1110-9

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