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

Br J Dermatol. 2008 Mar;158(3):618-20. doi: 10.1111/j.0007-0963.2007.08340.x.

Authors

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

Affiliation

¹ Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, and Department of Dermatology, Union Hospital, Hubei, China.

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

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Collagen Type VII / genetics*
DNA Mutational Analysis
Epidermolysis Bullosa Dystrophica / genetics*
Humans
Male
Pedigree
Point Mutation / genetics*
RNA Splicing / genetics*

Substances

Collagen Type VII