Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. [electronic resource]
- The Journal of investigative dermatology Apr 2001
- 606-9 p. digital
Publication Type: Journal Article
0022-202X
10.1046/j.1523-1747.2001.13041234.x doi
Amino Acid Sequence--genetics Base Sequence--genetics DNA, Recombinant Epidermis--pathology Haplotypes Humans Keratinocytes--ultrastructure Keratins--genetics Keratoderma, Palmoplantar--genetics Microsatellite Repeats Microscopy, Electron Molecular Sequence Data Mutation--genetics Pedigree Protein Isoforms--genetics