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[3P-045] Mutations in a glycosyltransferase responsible for biosynthesis of glycosaminoglycans cause multiple fractures and severe osteoporosis

Shuji Mizumoto1, Florian Job2, Laurie Smith3, Natario Couser3, Ashley Brazil3, Howard Saul4, Melanie Patterson5, Margaret I. Gibson5, Sarah Soden5,6, Neil Miller5, Isabelle Thiffault5,6, Carol Saunders5,6, Shuhei Yamada1, Katrin Hoffman2, Kazuyuki Sugahara1,7, Emily Farrow5,6 (1.Pharm., Meijo Univ., 2.Martin Luther Univ., Germany, 3.Univ. North Carolina, USA., 4.Cincinnati Children Hospital Med. Cent., USA., 5.Univ. Missouri Kansas City, USA., 6.Childrens Mercy Hospital, USA., 7.Life Sci., Hokkaido Univ.)

糖転移酵素, グリコサミノグリカン, プロテオグリカン, 骨疾患, 遺伝病

mizumoto@meijo-u.ac.jp

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