10:10 AM - 10:20 AM

[1T特-08(1P0267)] Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by mutation in glucuronyltransferase-I

〇Shuji Mizumoto^1,2, Birgit S. Budde³, Ryo Kogawa¹, Christian Becker³, Janine Altmuller³, Holger Thiele³, Franz Ruschendorf⁴, Mohammad R. Toliat³, Gerrit Kaleschke⁵, Johannes M. Hammerle⁶, Wolffang Hohne³, Kazuyuki Sugahara^1,2, Peter Nurnberg³, Ingo Kennerknecht⁷ (1.Hokkaido Univ, 2.Present address, Meijo Univ., 3.Univ. Cologne, Germany, 4.Max Delbruck Center for Mol. Med., Germany, 5.Univ. Hospital Munster, Germany, 6.Yayasan Pusaka Nias, Indonesia, 7.Westfalische Wilhelms Universitat, Germany)

proteoglycan, chondroitin sulfate, heparan sulfate, bone disorders, genetic diseases