๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis

โœ Scribed by M.C. Bolling; R.S. Bladergroen; M.A.M. Van Steensel; M. Willemsen; M.F. Jonkman; M. Van Geel


Book ID
108671047
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
413 KB
Volume
162
Category
Article
ISSN
0007-0963

No coin nor oath required. For personal study only.


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