[27V08-pm] 糖質・脂質

[27V08-pm01] Loss-of-function mutations in calcium-activated nucleotidase 1 (CANT1) and beta3 glucuronyltransferase 3 (B3GAT3) cause a pseudodiastrophic dysplasia

○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 Savarirayan^5,13, 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 Gökcek Obstetrics Child. Hosp., Turkey, 12. Tokyo Metropolitan Child. Med. Centr., 13. The Univ. Melbourne, Australia)