✦ LIBER ✦

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

✍ Scribed by Vanessa A Morgan; Keith Byron; Lisa Paiman2; George A Varigos1

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 99 KB
Volume: 40
Category: Article
ISSN: 0004-8380
DOI: 10.1046/j.1440-0960.1999.00365.x

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✦ Synopsis

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 helical rod domain of keratin 9. This provides further evidence that this codon is an important spot for mutation in keratin 9.

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