A novel deletion mutation in keratin 5 causing the removal of 5 amino acids and elevated mutant mRNA levels in Dowling-Meara epidermolysis bullosa simplex.
Kemp
M W
MW
Klingberg
S
S
Lloyd
L
L
Molloy
T J
TJ
Marr
P
P
Wang
Y
Y
Murrell
G A C
GA
Murrell
D F
DF
D000595:Amino Acid Sequence; D001483:Base Sequence; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D006801:Humans; D053555:Keratin-5; D007633:Keratins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D012333:RNA, Messenger / Q000032:analysis*
C503940:KRT5 protein, human; D053555:Keratin-5; D012333:RNA, Messenger; D007633:Keratins