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• W2026133072 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." @default.
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• W2026133072 date "2003-03-21" @default.
• W2026133072 modified "2023-10-17" @default.
• W2026133072 title "A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads" @default.
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• W2026133072 doi "https://doi.org/10.1002/ajmg.a.20090" @default.
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