Conflict of interest: none.
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Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa
Article first published online: 14 SEP 2012
DOI: 10.1111/j.1346-8138.2012.01666.x
© 2012 Japanese Dermatological Association
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How to Cite
Lee, S. H., Kim, S.-E., Noh, E. B., Oh, S.-W. and Kim, S.-C. (2013), Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa. The Journal of Dermatology, 40: 59–61. doi: 10.1111/j.1346-8138.2012.01666.x
Publication History
- Issue published online: 16 JAN 2013
- Article first published online: 14 SEP 2012
REFERENCES
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- 2, , , . Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet 2007; 44: 181–192.
- 3, . Automated splicing mutation analysis by information theory. Hum Mutat 2005; 25: 334–342.
- 4, , et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008; 58: 931–950.
- 5, . Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol 2008; 17: 553–568.