Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia
Titel:
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia
Auteur:
Takeichi, Takuya Torrelo, Antonio Lee, John Y.W. Ohno, Yusuke Lozano, María Luisa Kihara, Akio Liu, Lu Yasuda, Yuka Ishikawa, Junko Murase, Takatoshi Rodrigo, Ana Belén Fernández-Crehuet, Pablo Toi, Yoichiro Mellerio, Jemima Rivera, José Vicente, Vicente Kelsell, David P. Nishimura, Yutaka Okuno, Yusuke Kojima, Daiei Ogawa, Yasushi Sugiura, Kazumitsu Simpson, Michael A. McLean, W.H. Irwin Akiyama, Masashi McGrath, John A.