Literature DB >> 18067480

A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa.

X Ren1, J Y Liu, L Y Zhai, Q Yao, X Dai, Z Cai, P Liu, K Sun, C Huang, Q K Wang, M Liu.   

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Year:  2008        PMID： 18067480     DOI： 10.1111/j.0007-0963.2007.08340.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  1 in total

1.  An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.

Authors:  Catherine S Yang; Yin Lu; Anita Farhi; Carol Nelson-Williams; Michael Kashgarian; Earl J Glusac; Richard P Lifton; Richard J Antaya; Keith A Choate
Journal:  Pediatr Dermatol       Date:  2012-04-20       Impact factor: 1.588
  1 in total

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