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Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation

✍ Scribed by Wolfgang Küster; André Reis; Hans Hennies


Publisher
Springer-Verlag
Year
2002
Tongue
English
Weight
127 KB
Volume
294
Category
Article
ISSN
0340-3696

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A case of spontaneous mutation in the ke
✍ Vanessa A Morgan; Keith Byron; Lisa Paiman2; George A Varigos1 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 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