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

Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization, although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in four probands with undiagnosed skin hyperkeratosi...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5646945/
https://www.ncbi.nlm.nih.gov/pubmed/28774589
http://dx.doi.org/10.1016/j.jid.2017.06.028

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