[P-020(1Z01-10)] Pseudodiastrophic dysplasia caused by mutations in glucronyltransferase-I and calcium-activated nucleotidase-1

^○Shuji Mizumoto^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, Kazuyuki Sugahara¹, Hatice Mutlu-Albayrak¹¹, Gen Nishimura¹², Jan E Liebelt¹⁰, Shuhei Yamada¹, Ravi Savarirayan⁵, Hamish S Scott^3,4,8,9 (1.Fac. Pharm., Meijo Univ., 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.Tokyo Metropolitan Child. Med. Centr.)

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