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Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation

โœ Scribed by Setsu Kobayashi; Toshihiro Tanaka; Norihisa Matsuyoshi; Sadao Imamura


Book ID
115932350
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
499 KB
Volume
386
Category
Article
ISSN
0014-5793

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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