The Japanese Biochemical Society

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

Shuji Mizumoto1,2, Alicia B Byrne3,4, Peer Arts3, Patrick Yap5,6,7, Jinghua Feng3,4, Andreas W Schreiber3,4,8, Milena Babic3, Sarah L King-Smith3,9, Christopher P Barnett9,10, Lynette Moore9,11, Kazuyuki Sugahara1, Hatice Mutlu-Albayrak11, Gen Nishimura12, Jan E Liebelt10, Shuhei Yamada1, Ravi Savarirayan5, Hamish S Scott3,4,8,9 (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

mizumoto@meijo-u.ac.jp

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