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 journal › Article

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
Epidermolysis Bullosa Dystrophica
Founder Effect
Japan
Alleles
Genotype
Phenotype
Mutation

Keywords

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

ASJC Scopus subject areas

  • Dermatology
  • Biochemistry
  • Molecular Biology

Cite this

Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa. / Masunaga, Takuji; Saito, Masataka; Sasaki, Takashi; Kubo, Akiharu; Amagai, Masayuki; Ishiko, Akira.

In: Journal of Dermatological Science, Vol. 80, No. 3, 01.12.2015, p. 220-223.

Research output: Contribution to journal › Article

Masunaga, T, Saito, M, Sasaki, T, Kubo, A, Amagai, M & Ishiko, A 2015, 'Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa', Journal of Dermatological Science, vol. 80, no. 3, pp. 220-223. https://doi.org/10.1016/j.jdermsci.2015.09.011
Masunaga T, Saito M, Sasaki T, Kubo A, Amagai M, Ishiko A. Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa. Journal of Dermatological Science. 2015 Dec 1;80(3):220-223. https://doi.org/10.1016/j.jdermsci.2015.09.011
Masunaga, Takuji ; Saito, Masataka ; Sasaki, Takashi ; Kubo, Akiharu ; Amagai, Masayuki ; Ishiko, Akira. / Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa. In: Journal of Dermatological Science. 2015 ; Vol. 80, No. 3. pp. 220-223.
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AU - Ishiko, Akira

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