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 KojimaYasushi Ogawa, Kazumitsu Sugiura, Michael A. Simpson, W. H.Irwin McLean, Masashi Akiyama, John A. McGrath

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

56 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology