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

Research output: Contribution to journal › Letter › peer-review

16 Citations (Scopus)

Original language	English
Pages (from-to)	1187-1189
Number of pages	3
Journal	British Journal of Dermatology
Volume	170
Issue number	5
DOIs	https://doi.org/10.1111/bjd.12790
Publication status	Published - 2014

ASJC Scopus subject areas

Dermatology

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

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AU - Niizeki, H.

AU - Shiohama, A.

AU - Sasaki, T.

AU - Seki, A.

AU - Kabashima, K.

AU - Otsuka, A.

AU - Takeshita, M.

AU - Hirakiyama, A.

AU - Okuyama, T.

AU - Tanese, K.

AU - Ishiko, A.

AU - Amagai, M.

AU - Kudoh, J.

PY - 2014

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M3 - Letter

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

ASJC Scopus subject areas

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