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

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 - Seki, A.

AU - Kabashima, K.

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AU - Tanese, K.

AU - Ishiko, A.

AU - Amagai, M.

AU - Kudoh, J.

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