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Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

  • Takuya Takeichi
  • , Antonio Torrelo
  • , John Y.W. Lee
  • , Yusuke Ohno
  • , María Luisa Lozano
  • , Akio Kihara
  • , Lu Liu
  • , Yuka Yasuda
  • , Junko Ishikawa
  • , Takatoshi Murase
  • , Ana Belén Rodrigo
  • , Pablo Fernández-Crehuet
  • , Yoichiro Toi
  • , Jemima Mellerio
  • , José Rivera
  • , Vicente Vicente
  • , David P. Kelsell
  • , Yutaka Nishimura
  • , Yusuke Okuno
  • , Daiei Kojima
    • Yasushi Ogawa, Kazumitsu Sugiura, Michael A. Simpson, W. H.Irwin McLean, Masashi Akiyama, John A. McGrath

Research output: Contribution to journal › Article › peer-review

64   Link opens in a new tab Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology