[P-020(1Z01-10)] 偽性捻曲性骨異形成症はグルクロン酸転移酵素-Iおよびウリジン二リン酸ヌクレオチダーゼの変異によって発症する

^○水本 秀二^1,2, Alicia B Byrne^3,4, Peer Arts³, Patrick Yap^5,6,7, Jinghua Feng^3,4, Andreas W Schreiber^3,4,8, Milena Babic³, Sarah L King-Smith^3,9, Christopher P Barnett^9,10, Lynette Moore^9,11, 菅原 一幸¹, Hatice Mutlu-Albayrak¹¹, 西村 玄¹², Jan E Liebelt¹⁰, 山田 修平¹, Ravi Savarirayan⁵, Hamish S Scott^3,4,8,9 (1.名城大薬, 2.Univ. Otago, New Zealand, 3.Centr. Cancer Biol., An alliance between SA Pathol., the Univ. South Australia, 4.Univ. South Australia, 5.Royal Child. Hosp., Australia, 6.Genetic Health Service New Zealand, 7.The Univ. Auckland, New Zealand, 8.The Univ. Adelaide, Australia, 9.Australian Genom. Health Alliance, Australia, 10.Women Child. Hosp., Australia, 11.Cengiz Gokcek Obstetrics Child. Hosp., Turkey, 12.東京小児総合医療セ)

キーテクノロジー：HPLC

プロテオグリカン、偽性捻曲性骨異形成症、B3GAT3、CANT1、UDP