Floeth, M

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