Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. [electronic resource]
Producer: 20010510Description: 606-9 p. digitalISSN:- 0022-202X
- 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
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Publication Type: Journal Article
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