A case of spontaneous mutation in the ke
β
Vanessa A Morgan; Keith Byron; Lisa Paiman2; George A Varigos1
π
Article
π
1999
π
John Wiley and Sons
π
English
β 99 KB
## SUMMARY Epidermolytic palmoplantar keratoderma appears to be due to defects in keratin 9, the palmoplantar specific type 1 keratin. We report a case of spontaneous mutation, a C to T transition at codon 162, resulting in an arginine to tryptophan substitution in the 1 A region of the alpha helic