Novel mutation in CDKL5 of a patient with severe Rett syndrome symptoms

Syouichi Katayama; Antonius Christianto; Isamu Kameshita; Tetsuya Inazu

[1P-0729] Novel mutation in CDKL5 of a patient with severe Rett syndrome symptoms

〇Syouichi Katayama², Antonius Christianto¹, Isamu Kameshita², Tetsuya Inazu¹ (1.Dept. of Pharm., Coll. of Pharm., Ritsumeikan Univ., 2.Dept. Appl. Biol. Sci., Fac. Agr., Kagawa Univ.)

Rett syndrome , Cyclin-dependent kinase-like 5 (CDKL5), protein kinase, genotyping, mutant allele

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The 39th Annual Meeting of the Molecular Biology Society of Japan

[1P-0729] Novel mutation in CDKL5 of a patient with severe Rett syndrome symptoms

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