✦ LIBER ✦

L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma

✍ Scribed by A. Kon; N. Ito; Y. Kudo; K. Nomura; K. Yoneda; K Hanada; I Hashimoto; K. Takagaki

Book ID: 108668915
Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 621 KB
Volume: 155
Category: Article
ISSN: 0007-0963
DOI: 10.1111/j.1365-2133.2006.07358.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation of keratin 9 gene (R162

A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma

✍ Atsushi Kon; Kae Itagaki; Kozo Yoneda; Keiichi Takagaki 📂 Article 📅 2004 🏛 Springer-Verlag 🌐 English ⚖ 259 KB

Mutation S233L in the 1B Domain of Kerat

Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with “Tonotubular” Keratin

✍ Terron-Kwiatkowski, Ana; van Steensel, Maurice A M; van Geel, Michel; Lane, E Bi 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 206 KB

A case of spontaneous mutation in the ke

A case of spontaneous mutation in the keratin 9 gene associated with epidermolytic palmoplantar keratoderma

✍ Vanessa A Morgan; Keith Byron; Lisa Paiman2; George A Varigos1 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 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

A Novel Mutation and Large Size Polymorp

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma of the Ichthyosis Hystrix Curth–Macklin Type

✍ Richardson, Elizabeth S; Lee, Jason B; Hyde, Patricia H; Richard, Gabriele 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 210 KB