The novel<i>SLCO2A1</i>heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype
Hironori Niizeki(National Center For Child Health and Development), Jun Kudoh(Keio University), Atsushi Otsuka(Kyoto University), Keiji Tanese(Toho University), Kenji Kabashima(Agency for Science, Technology and Research), M Takeshita(Tohoku Medical and Pharmaceutical University), Akira Ishiko(Keio University), Asami Hirakiyama(National Center For Child Health and Development), Torayuki Okuyama, Masayuki Amagai(RIKEN Center for Integrative Medical Sciences), Takashi Sasaki(Keio University), Atsuhito Seki(National Center For Child Health and Development), Aiko Shiohama(Keio University)
Cited by 18
Related Papers
Anti-PD-1 and Anti-CTLA-4 Therapies in Cancer: Mechanisms of Action, Efficacy, and Limitations
|Frontiers in Oncology|2018|1.3k
Inflammation-free, gas-permeable, lightweight, stretchable on-skin electronics with nanomeshes
|Nature Nanotechnology|2017|1.1k
Consensus statement on definitions of disease, end points, and therapeutic response for pemphigus
|Journal of the American Academy of Dermatology|2008|586
Increasing Comorbidities Suggest that Atopic Dermatitis Is a Systemic Disorder
|Journal of Investigative Dermatology|2016|377