Presentation Information

[28-63-pm2-26S]Analysis of enzyme activity and intracellular localization of novel mutant dermatan sulfate epimerase causing musculocontractural type Ehlers-Danlos syndrome

○Wakana Nohara1, Shuji Mizumoto1, Tomomi Yamaguchi2,3,4, Yuka Okamura1, Tomoki Kosho2,3,4, Alison Eaton5, Shuhei Yamada1 (1. Grad. Sch. Pharm. Sci., Meijo Univ., 2. Dept. Med. Genet, Shinshu Univ. School of Med., 3. Ctr. Med. Genet., Shinshu Univ. Hosp., 4. Div. Clin. Seq., Shinshu Univ. School of Med., 5. Alberta Univ., Canada)

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