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An insertion-deletion mutation in keratin 9 in three Chinese families with epidermolytic palmoplantar keratoderma

โœ Scribed by X-N. Zhang; X-H. He; Z. Lai; W-G. Yin; Y-P. Le; J-M. Guo; W. Mao; X-L. He; J-C. Li


Book ID
108668049
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
128 KB
Volume
152
Category
Article
ISSN
0007-0963

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๐Ÿ“œ SIMILAR VOLUMES


A case of spontaneous mutation in the ke
โœ Vanessa A Morgan; Keith Byron; Lisa Paiman2; George A Varigos1 ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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