Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders
scientific article published on 9 May 2013
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author: Andrea Superti-Furga, Andrew Howard, Roberto Mendoza-Londono, Yoshinori Tsurusaki, Hirotomo Saitsu, Shuji Mizumoto, Sheila Unger, Reiko Horikawa, Luisa Bonafé, Gen Nishimura, Shirō Ikegawa, Ekkehart Lausch, Noriko Miyake, Aritoshi Iida
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