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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Main Authors: 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
Jezik:Inglês
Izdano: Elsevier 2013
Teme:
Report
Online dostop: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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