Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. [electronic resource]
Producer: 20020613Description: 838-44 p. digitalISSN:- 0022-202X
- Base Sequence
- Chromosomes, Human, Pair 12
- DNA Mutational Analysis
- Desmosomes -- pathology
- Epidermis -- pathology
- Family Health
- Female
- Frameshift Mutation
- Gene Expression
- Genetic Linkage
- Green Fluorescent Proteins
- Humans
- Indicators and Reagents -- metabolism
- Keratins -- chemistry
- Keratoderma, Palmoplantar -- genetics
- Luminescent Proteins -- genetics
- Male
- Microscopy, Electron
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Pedigree
- Phenotype
- Protein Structure, Tertiary
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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