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A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads

✍ Scribed by Lu, Yong ;Guo, Chenhong ;Liu, Qiji ;Zhang, Xiyu ;Cheng, Lin ;Li, Jiangxia ;Chen, Bingxi ;Gao, Guimin ;Zhou, Haibin ;Guo, Yishou ;Li, Yefu ;Gong, Yaoqin


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
156 KB
Volume
120A
Category
Article
ISSN
0148-7299

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A case of spontaneous mutation in the ke
✍ Vanessa A Morgan; Keith Byron; Lisa Paiman2; George A Varigos1 πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 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