Genetic abnormalities and clinical classification of epidermolysis bullosa
Author:
Publisher
Springer Science and Business Media LLC
Subject
Dermatology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00403-002-0369-0.pdf
Reference26 articles.
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2. Fine JD, Eady RA, Bauer EA, Briggaman RA, Bruckner-Tuderman L, Christiano A, Heagerty A, Hintner H, Jonkman MF, McGrath J, McGuire J, Moshell A, Shimizu H, Tadini G, Uitto J (2000) Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on Diagnosis and Classification of Epidermolysis Bullosa. J Am Acad Dermatol 42:1051–1066
3. Christiano AM, Bart BJ, Epstein EH Jr, Uitto J (1996) Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene. J Invest Dermatol 106:1340–1342
4. Wakasugi S, Mizutari K, Ono T (1998) Clinical phenotype of Bart's syndrome seen in a family with dominant dystrophic epidermolysis bullosa. J Dermatol 25:517–522
5. Moog U, de Die-Smulders CE, Scheffer H, van der Vlies P, Henquet CJ, Jonkman MF (1999) Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. Am J Med Genet 86:376–379
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