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Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene

✍ Scribed by Barber, Alison G.; Wajid, Muhammad; Columbo, Morgana; Lubetkin, Jillian; Christiano, Angela M.


Book ID
119293237
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
473 KB
Volume
45
Category
Article
ISSN
0923-1811

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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