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Journal description
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Details for article 1 of 41 found articles
| Title: |
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia |
| Author: |
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. |
| Appeared in: |
Journal of investigative dermatology |
| Paging: | Volume 137 (2017) nr. 11 pages 2344-2353 |
| Year: |
2017 |
| Contents: | |
| Publisher: |
The Authors |
| Source file: |
Elektronische Wetenschappelijke Tijdschriften |
Details for article 1 of 41 found articles
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