Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

Proteoglycans are important components of cell plasma membranes and extracellular matrices of connective tissues. They consist of glycosaminoglycan chains attached to a core protein via a tetrasaccharide linkage, whereby the addition of the third residue is catalyzed by galactosyltransferase II (β3G...

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Main Authors: Malfait, Fransiska, Kariminejad, Ariana, Van Damme, Tim, Gauche, Caroline, Syx, Delfien, Merhi-Soussi, Faten, Gulberti, Sandrine, Symoens, Sofie, Vanhauwaert, Suzanne, Willaert, Andy, Bozorgmehr, Bita, Kariminejad, Mohamad Hasan, Ebrahimiadib, Nazanin, Hausser, Ingrid, Huysseune, Ann, Fournel-Gigleux, Sylvie, De Paepe, Anne
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3675258/
https://ncbi.nlm.nih.gov/pubmed/23664118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.04.016
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