Mild dystrophic epidermolysis bullosa associated with homozygous gene mutation c.6216+5G>T in type VII collagen ultrastructurally suggestive of the decreased number of anchoring fibrils-Reference-Cited by-同舟云学术

Mild dystrophic epidermolysis bullosa associated with homozygous gene mutation c.6216+5G>T in type VII collagen ultrastructurally suggestive of the decreased number of anchoring fibrils

Published:2018-04-25 Issue:11 Volume:45 Page:e305-e306
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Komori Takaya¹^ORCID,Dainichi Teruki¹^ORCID,Otsuka Atsushi¹,Nakano Hajime²,Sawamura Daisuke²,Ishida-Yamamoto Akemi³^ORCID,Kabashima Kenji¹⁴^ORCID

Affiliation:

1. Department of Dermatology; Kyoto University Graduate School of Medicine; Kyoto Japan

2. Department of Dermatology; Hirosaki University Graduate School of Medicine; Hirosaki Japan

3. Department of Dermatology; Asahikawa Medical University; Asahikawa Japan

4. Singapore Immunology Network (SIgN) and Institute of Medical Biology; Agency for Science, Technology and Research (A*STAR); Biopolis; Singapore

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.14337/fullpdf

Reference4 articles.

1. Human type VII collagen: cDNA cloning and chromosomal mapping of the gene;Parente;Proc Natl Acad Sci U S A,1991

2. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa;Dang;Exp Dermatol,2008

3. Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation;Saito;J Dermatol Sci,2008

4. Japanese recurrent mutation c.6216 + 5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa;Masunaga;J Dermatol Sci,2015

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