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(Kyoto University), M Takeshita(University of Miyazaki), Akira Ishiko(Toho University), Asami Hirakiyama(National Center For Child Health and Development), Torayuki Okuyama, Masayuki Amagai(Keio University), Takashi Sasaki(Keio University), Atsuhito Seki(National Center For Child Health and Development), Aiko Shiohama(Keio University)
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