Loss-of-function mutations in <em>CSGALNACT1</em> cause a skeletal dysplasia

○Shuji Mizumoto

9:48 AM - 10:00 AM

[28M-am05] Loss-of-function mutations in CSGALNACT1 cause a skeletal dysplasia

○Shuji Mizumoto^1,2, Andreas R. Janecke³, Azita Sadeghpour⁴, Gundula Povysil⁵, Marie T. McDonald⁵, Sheila Unger⁶, Susanne Greber-Platzer⁷, Nicholas Katsanis⁴, Andrea Superti-Furga⁶, Kazuyuki Sugahara¹, Erica E. Davis⁴, Shuhei Yamada¹, Julia Vodopiutz⁷ (1. Facult. Pharm., Meijo Univ., 2. Dunedin Sch. Med., Univ. Otago, New Zealand, 3. Med. Univ. Innsbruck, Austria, 4. Duke Univ. Med. Center, U.S.A., 5. Johannes Kepler Univ., Austria, 6. Univ. Lausanne, Switzerland, 7. Med. Univ. Vienna, Austria)

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Presentation information

[28M-am] 細胞内情報伝達、その他

[28M-am05] Loss-of-function mutations in CSGALNACT1 cause a skeletal dysplasia

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