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Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

✍ Scribed by Rodríguez, Fernando A.; Gana, María José; Yubero, María Joao; Zillmann, Gisela; Krämer, Susanne M.; Catalán, Javiera; Rubio-Astudillo, Julia; González, Sergio; Liu, Lu; Ozoemena, Linda; Mellerio, Jemima M.; McGrath, John A.; Palisson, Francis; Conget, Paulette

Book ID: 119293803
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 465 KB
Volume: 65
Category: Article
ISSN: 0923-1811
DOI: 10.1016/j.jdermsci.2011.11.010

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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