N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. [electronic resource]
Producer: 19990708Description: 971-6 p. digitalISSN:- 0964-6906
- Amino Acid Sequence
- Base Sequence
- Cadherins -- genetics
- Cytoskeletal Proteins -- genetics
- DNA -- chemistry
- DNA Mutational Analysis
- Desmoglein 1
- Desmogleins
- Desmoplakins
- Desmosomes -- chemistry
- Exons -- genetics
- Family Health
- Female
- Foot Dermatoses -- genetics
- Genes, Dominant
- Genetic Linkage
- Humans
- Keratoderma, Palmoplantar -- genetics
- Male
- Molecular Sequence Data
- Pedigree
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- RNA Splicing -- genetics
- RNA, Messenger -- genetics
- Sequence Deletion
- Skin -- metabolism
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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