Characterization of dominant mutations associated with intellectual disability in the ceramide transport protein-encoding CERT1 gene

Norito Tamura

[P-594] Characterization of dominant mutations associated with intellectual disability in the ceramide transport protein-encoding CERT1 gene

Norito Tamura¹, Hiroaki Murakami², Kenji Kurosawa², ^○Kentaro Hanada¹ (1.Department of Biochemistry & Cell Biology, National Institute of Infectious Diseases, 2.Department of Genetics, Kanagawa Children's Medical Center)

キーテクノロジー：ゲノム解析

精神発達遅滞、CERT、リン酸化、スフィンゴ脂質、脂質輸送タンパク質

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The 93rd Annual Meeting of JBS

[P-594] Characterization of dominant mutations associated with intellectual disability in the ceramide transport protein-encoding CERT1 gene

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