Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa. [electronic resource]
- The Journal of investigative dermatology Sep 1998
- 528-33 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0022-202X
10.1046/j.1523-1747.1998.00325.x doi
Aged Chromosome Deletion Codon Collagen--genetics Epidermolysis Bullosa, Junctional--genetics Heterozygote Homozygote Humans Male Point Mutation