The 141st Annual Meeting of the Pharmaceutical Society of Japan (Hiroshima)

Presentation information

Oral Presentation

(C) Biochemistry

[27V08-pm] 糖質・脂質

Sat. Mar 27, 2021 1:15 PM - 3:03 PM [Room V08] Oral Presentation 8 (Online)

座長:北川 裕之(神戸薬大)、木原 章雄(北大院薬)

1:15 PM - 1:27 PM

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

○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 Savarirayan5,13, 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 Gökcek Obstetrics Child. Hosp., Turkey, 12. Tokyo Metropolitan Child. Med. Centr., 13. The Univ. Melbourne, Australia)

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