Hatsell, S J

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