Identification and characterization of a recessive missense mutation p.P277L in SERPINB7 in nagashima-type palmoplantar keratosis

Aiko Shiohama, Takashi Sasaki, Showbu Sato, Jun Ichi Sakabe, Taisuke Ito, Hideka Isoda, Yukari Zenke, Toshiaki Nakano, Tatsuo Maeda, Akira Ishiko, Kenji Kabashima, Yoshiki Tokura, Yoshihiko Mitsuhashi, Masayuki Amagai, Akiharu Kubo

Research output: Contribution to journalArticle

6 Citations (Scopus)
Original languageEnglish
Pages (from-to)325-328
Number of pages4
JournalJournal of Investigative Dermatology
Volume136
Issue number1
DOIs
Publication statusPublished - 2016 Jan 1

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Palmoplantar Keratoderma
Serpins
Inheritance Patterns
Mass Screening
Missense Mutation
Pedigree
Genetic Predisposition to Disease
Japan
Immunohistochemistry
Genotype
Phenotype
Incidence

ASJC Scopus subject areas

  • Dermatology
  • Biochemistry
  • Cell Biology
  • Molecular Biology

Cite this

Identification and characterization of a recessive missense mutation p.P277L in SERPINB7 in nagashima-type palmoplantar keratosis. / Shiohama, Aiko; Sasaki, Takashi; Sato, Showbu; Sakabe, Jun Ichi; Ito, Taisuke; Isoda, Hideka; Zenke, Yukari; Nakano, Toshiaki; Maeda, Tatsuo; Ishiko, Akira; Kabashima, Kenji; Tokura, Yoshiki; Mitsuhashi, Yoshihiko; Amagai, Masayuki; Kubo, Akiharu.

In: Journal of Investigative Dermatology, Vol. 136, No. 1, 01.01.2016, p. 325-328.

Research output: Contribution to journalArticle

Shiohama, A, Sasaki, T, Sato, S, Sakabe, JI, Ito, T, Isoda, H, Zenke, Y, Nakano, T, Maeda, T, Ishiko, A, Kabashima, K, Tokura, Y, Mitsuhashi, Y, Amagai, M & Kubo, A 2016, 'Identification and characterization of a recessive missense mutation p.P277L in SERPINB7 in nagashima-type palmoplantar keratosis', Journal of Investigative Dermatology, vol. 136, no. 1, pp. 325-328. https://doi.org/10.1038/JID.2015.347
Shiohama, Aiko ; Sasaki, Takashi ; Sato, Showbu ; Sakabe, Jun Ichi ; Ito, Taisuke ; Isoda, Hideka ; Zenke, Yukari ; Nakano, Toshiaki ; Maeda, Tatsuo ; Ishiko, Akira ; Kabashima, Kenji ; Tokura, Yoshiki ; Mitsuhashi, Yoshihiko ; Amagai, Masayuki ; Kubo, Akiharu. / Identification and characterization of a recessive missense mutation p.P277L in SERPINB7 in nagashima-type palmoplantar keratosis. In: Journal of Investigative Dermatology. 2016 ; Vol. 136, No. 1. pp. 325-328.
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