Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia
KDSR基因的双等位基因突变会破坏神经酰胺的合成,并导致一系列与血小板减少症相关的角化障碍。
期刊:Journal of Investigative Dermatology
影响因子:5.7
doi:10.1016/j.jid.2017.06.028
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