The Japanese Biochemical Society/The Molecular Biology Society of Japan

ConBio2017

ConBio2017

Dec 6, 2017 - Dec 9, 2017
Kobe Port Island(Kobe International Conference Center, Kobe Portopia Hotel, Kobe International Exhibition Hall, The Kobe Chamber of Commerce and Industry)

[1P-0011] Deficiency in a glycosylation enzyme, GFPT1, causes defective neuromuscular signal tranmission in human

〇Paniz Farshadyeganeh1, Mohammad Nazim1, Bisei Ohkawara1, Kinji Ohno1 (1.Dep. of Neurogenetics., Grad. Sch. of Med., Univ. of Nagoya)

Congenital myasthenic syndrome、neuromuscular junction、GFPT1

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