TY  - GEN
AU  - Whittock,Neil V
AU  - Smith,Frances J
AU  - Wan,Hong
AU  - Mallipeddi,Rajeev
AU  - Griffiths,W Andrew
AU  - Dopping-Hepenstal,Patricia
AU  - Ashton,Gabrielle H
AU  - Eady,Robin A
AU  - McLean,W H Irwin
AU  - McGrath,John A
TI  - Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma
SN  - 0022-202X
PY  - 2002///0613
KW  - Base Sequence
KW  - Chromosomes, Human, Pair 12
KW  - DNA Mutational Analysis
KW  - Desmosomes
KW  - pathology
KW  - Epidermis
KW  - Family Health
KW  - Female
KW  - Frameshift Mutation
KW  - Gene Expression
KW  - Genetic Linkage
KW  - Green Fluorescent Proteins
KW  - Humans
KW  - Indicators and Reagents
KW  - metabolism
KW  - Keratins
KW  - chemistry
KW  - Keratoderma, Palmoplantar
KW  - genetics
KW  - Luminescent Proteins
KW  - Male
KW  - Microscopy, Electron
KW  - Molecular Sequence Data
KW  - Mutagenesis, Site-Directed
KW  - Pedigree
KW  - Phenotype
KW  - Protein Structure, Tertiary
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1046/j.1523-1747.2002.01750.x
ER  -