Article
Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.
Clinical and experimental dermatology - 1 Jan 2003
Bauer J W, Lanschuetzer C
Abstract excerpt
Non-Herlitz junctional epidermolysis bullosa (nH-JEB) is caused predominantly by mutations leading to premature stop codons on both alleles of the type XVII collagen gene (COL17A1). The analysis of mutations in this gene has provided a means of correlating genotype with phenotype of nH-JEB patients. The phenotype of nH-JEB is characterized by generalized blistering of skin and mucous membranes with atrophic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.