The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype

H. Niizeki; A. Shiohama; T. Sasaki; A. Seki; K. Kabashima; A. Otsuka; M. Takeshita; A. Hirakiyama; T. Okuyama; K. Tanese; A. Ishiko; M. Amagai; J. Kudoh

doi:10.1111/bjd.12790

The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype

H. Niizeki, A. Shiohama, T. Sasaki, A. Seki, K. Kabashima, A. Otsuka, M. Takeshita, A. Hirakiyama, T. Okuyama, K. Tanese, A. Ishiko, M. Amagai, J. Kudoh

研究成果: Letter › 査読

17 被引用数 (Scopus)

本文言語	English
ページ（範囲）	1187-1189
ページ数	3
ジャーナル	British Journal of Dermatology
巻	170
号	5
DOI	https://doi.org/10.1111/bjd.12790
出版ステータス	Published - 2014

ASJC Scopus subject areas

皮膚病学

文献へのアクセス

10.1111/bjd.12790

他のファイルとリンク

引用スタイル

Niizeki, H., Shiohama, A., Sasaki, T., Seki, A., Kabashima, K., Otsuka, A., Takeshita, M., Hirakiyama, A., Okuyama, T., Tanese, K., Ishiko, A., Amagai, M., & Kudoh, J. (2014). The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype. British Journal of Dermatology, 170(5), 1187-1189. https://doi.org/10.1111/bjd.12790

Niizeki, H, Shiohama, A, Sasaki, T, Seki, A, Kabashima, K, Otsuka, A, Takeshita, M, Hirakiyama, A, Okuyama, T, Tanese, K, Ishiko, A, Amagai, M & Kudoh, J 2014, 'The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype', British Journal of Dermatology, vol. 170, no. 5, pp. 1187-1189. https://doi.org/10.1111/bjd.12790

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AU - Kudoh, J.

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