A case of spontaneous mutation in the ke
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Vanessa A Morgan; Keith Byron; Lisa Paiman2; George A Varigos1
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Article
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1999
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John Wiley and Sons
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English
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## 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