N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. [electronic resource]
- Human molecular genetics Jun 1999
- 971-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0964-6906
10.1093/hmg/8.6.971 doi
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