TY  - GEN
AU  - Hatsell,S J
AU  - Eady,R A
AU  - Wennerstrand,L
AU  - Dopping-Hepenstal,P
AU  - Leigh,I M
AU  - Munro,C
AU  - Kelsell,D P
TI  - Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds
SN  - 0022-202X
PY  - 2001///0510
KW  - Amino Acid Sequence
KW  - genetics
KW  - Base Sequence
KW  - DNA, Recombinant
KW  - Epidermis
KW  - pathology
KW  - Haplotypes
KW  - Humans
KW  - Keratinocytes
KW  - ultrastructure
KW  - Keratins
KW  - Keratoderma, Palmoplantar
KW  - Microsatellite Repeats
KW  - Microscopy, Electron
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Protein Isoforms
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1046/j.1523-1747.2001.13041234.x
ER  -