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

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

Abstract 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 betwe...

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Bibliographic Details
Main Authors: Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens, Fransiska Malfait
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Connective tissue
Glycosaminoglycans
GAG Linkeropathies
B3GAT3
Genotype
Phenotype
Online Access:http://link.springer.com/article/10.1186/s13023-019-1110-9

Internet

http://link.springer.com/article/10.1186/s13023-019-1110-9

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