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    Am J Med Genet A. 2003 Jul 30;120A(3):345-9.

    A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.

    Lu Y, Guo C, Liu Q, Zhang X, Cheng L, Li J, Chen B, Gao G, Zhou H, Guo Y, Li Y, Gong Y.

    Research Institute of Medical Genetics, School of Medicine, Shandong University, Jinan Shandong, People's Republic of China.

    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. Copyright 2003 Wiley-Liss, Inc.

    PMID: 12838553 [PubMed - indexed for MEDLINE]

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