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, Takashi Sasaki, A. Seki, K. Kabashima, A. Otsuka, M. Takeshita, A. Hirakiyama, T. Okuyama, K. Tanese, A. Ishiko, Masayuki Amagai, Jun Kudo

Research output: Contribution to journalArticle

14 Citations (Scopus)
Original languageEnglish
Pages (from-to)1187-1189
Number of pages3
JournalBritish Journal of Dermatology
Volume170
Issue number5
DOIs
Publication statusPublished - 2014

Fingerprint

Primary Hypertrophic Osteoarthropathy
Organic Anion Transporters
Nonsense Codon
Missense Mutation
Heterozygote
Phenotype

ASJC Scopus subject areas

  • Dermatology
  • Medicine(all)

Cite this

The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype. / Niizeki, H.; Shiohama, A.; Sasaki, Takashi; Seki, A.; Kabashima, K.; Otsuka, A.; Takeshita, M.; Hirakiyama, A.; Okuyama, T.; Tanese, K.; Ishiko, A.; Amagai, Masayuki; Kudo, Jun.

In: British Journal of Dermatology, Vol. 170, No. 5, 2014, p. 1187-1189.

Research output: Contribution to journalArticle

Niizeki, H. ; Shiohama, A. ; Sasaki, Takashi ; Seki, A. ; Kabashima, K. ; Otsuka, A. ; Takeshita, M. ; Hirakiyama, A. ; Okuyama, T. ; Tanese, K. ; Ishiko, A. ; Amagai, Masayuki ; Kudo, Jun. / The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype. In: British Journal of Dermatology. 2014 ; Vol. 170, No. 5. pp. 1187-1189.
@article{6f20e11becd04350ae877a3a2bc0407c,
title = "The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype",
author = "H. Niizeki and A. Shiohama and Takashi 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 Masayuki Amagai and Jun Kudo",
year = "2014",
doi = "10.1111/bjd.12790",
language = "English",
volume = "170",
pages = "1187--1189",
journal = "British Journal of Dermatology",
issn = "0007-0963",
publisher = "Wiley-Blackwell",
number = "5",

}

TY - JOUR

T1 - The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype

AU - Niizeki, H.

AU - Shiohama, A.

AU - Sasaki, Takashi

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, Masayuki

AU - Kudo, Jun

PY - 2014

Y1 - 2014

UR - http://www.scopus.com/inward/record.url?scp=84901044238&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84901044238&partnerID=8YFLogxK

U2 - 10.1111/bjd.12790

DO - 10.1111/bjd.12790

M3 - Article

VL - 170

SP - 1187

EP - 1189

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 5

ER -