Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa

Takuji Masunaga, Masataka Saito, Takashi Sasaki, Akiharu Kubo, Masayuki Amagai, Akira Ishiko

Research output: Contribution to journalArticle

1 Citation (Scopus)
Original languageEnglish
Pages (from-to)220-223
Number of pages4
JournalJournal of Dermatological Science
Volume80
Issue number3
DOIs
Publication statusPublished - 2015 Dec 1

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Collagen Type VII

Keywords

  • Genodermatosis
  • Recurrent mutation
  • Skin blistering
  • Splice site mutation
  • Type VII collagen

ASJC Scopus subject areas

  • Dermatology
  • Biochemistry
  • Molecular Biology

Cite this

@article{8698de4871fe43509e43cf703bad3dbc,
title = "Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa",
keywords = "Genodermatosis, Recurrent mutation, Skin blistering, Splice site mutation, Type VII collagen",
author = "Takuji Masunaga and Masataka Saito and Takashi Sasaki and Akiharu Kubo and Masayuki Amagai and Akira Ishiko",
year = "2015",
month = "12",
day = "1",
doi = "10.1016/j.jdermsci.2015.09.011",
language = "English",
volume = "80",
pages = "220--223",
journal = "Journal of Dermatological Science",
issn = "0923-1811",
publisher = "Elsevier Ireland Ltd",
number = "3",

}

TY - JOUR

T1 - Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa

AU - Masunaga, Takuji

AU - Saito, Masataka

AU - Sasaki, Takashi

AU - Kubo, Akiharu

AU - Amagai, Masayuki

AU - Ishiko, Akira

PY - 2015/12/1

Y1 - 2015/12/1

KW - Genodermatosis

KW - Recurrent mutation

KW - Skin blistering

KW - Splice site mutation

KW - Type VII collagen

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U2 - 10.1016/j.jdermsci.2015.09.011

DO - 10.1016/j.jdermsci.2015.09.011

M3 - Article

VL - 80

SP - 220

EP - 223

JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

SN - 0923-1811

IS - 3

ER -