In:
American Journal of Medical Genetics Part A, Wiley, Vol. 120A, No. 3 ( 2003-07-30), p. 345-349
Abstract:
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominantly inherited disease. We studied a family from Shandong, China, having patients suffering from EPPK with a unique symptom—knuckle pads. We noticed that both the hyperkeratosis and knuckle pads in the Chinese family were friction‐related. Candidate gene analysis was carried out using linkage analysis and direct sequencing. A novel L160F mutation in keratin 9 was found, and its effects on the secondary structure of keratin 9 were studied. We predict that the L160F mutation is also responsible for the knuckle pads in the family. Our study provides a new clue for the study of the function of keratin 9. © 2003 Wiley‐Liss, Inc.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v120a:3
DOI:
10.1002/ajmg.a.20090
Language:
English
Publisher:
Wiley
Publication Date:
2003
detail.hit.zdb_id:
1493479-6
SSG:
12
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