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A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma

โœ Scribed by Kiyo Shimazu; Yuichiro Tsunemi; Naoko Hattori; Hidehisa Saeki; Mayumi Komine; Makoto Adachi; Kunihiko Tamaki


Book ID
110096557
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
494 KB
Volume
45
Category
Article
ISSN
0011-9059

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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