Rickman, L

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