Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Proteoglycans (PGs) are a major component of the extracellular matrix in many tissues and function as structural and regulatory molecules. PGs are composed of core proteins and glycosaminoglycan (GAG) side chains. The biosynthesis of GAGs starts with the linker region that consists of four sugar res...

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Hauptverfasser: Nakajima, Masahiro, Mizumoto, Shuji, Miyake, Noriko, Kogawa, Ryo, Iida, Aritoshi, Ito, Hironori, Kitoh, Hiroshi, Hirayama, Aya, Mitsubuchi, Hiroshi, Miyazaki, Osamu, Kosaki, Rika, Horikawa, Reiko, Lai, Angeline, Mendoza-Londono, Roberto, Dupuis, Lucie, Chitayat, David, Howard, Andrew, Leal, Gabriela F., Cavalcanti, Denise, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Watanabe, Shigehiko, Lausch, Ekkehart, Unger, Sheila, Bonafé, Luisa, Ohashi, Hirofumi, Superti-Furga, Andrea, Matsumoto, Naomichi, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2013
Schlagworte:
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3675233/
https://ncbi.nlm.nih.gov/pubmed/23664117
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.04.003
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