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Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations

✍ Scribed by Takayuki Murata; Takuji Masunaga; Akira Ishiko; Hiroshi Shimizu; Takeji Nishikawa


Book ID
106078450
Publisher
Springer-Verlag
Year
2004
Tongue
English
Weight
203 KB
Volume
295
Category
Article
ISSN
0340-3696

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The international dystrophic epidermolys
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Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or recessively (RDEB) and covers a group of several distinctive phenotypes. A large number of unique COL7A1 mutations have been shown to underlie DEB. Although general genotype

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Epidermolysis bullosa (EB), a group of heritable blistering diseases characterized by tissue separation within the cutaneous basement membrane zone, is inherited either in an autosomal dominant or autosomal recessive fashion. EB has been divided into four broad categories based on the precise level