Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree.
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DOI: 10.1089/gtmb.2018.0154
Abstract: AIMS To identify potential causative gene mutations in a large Han Chinese pedigree with diffuse nonepidermolytic palmoplantar keratoderma (NEPPK). METHODS We enrolled 11 patients and 8 healthy individuals from a pedigree with NEPPK and 100… read more here.
Keywords: novel splice; chinese pedigree; palmoplantar keratoderma; krt1 ... See more keywords