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  • Title: [Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma].
    Author: Zhang BR, Yin XZ, Xia K, Ding MP, Hu ZM, Zheng M, Liu ZR, Xia JH.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Dec; 21(6):570-3. PubMed ID: 15583984.
    Abstract:
    OBJECTIVE: To identify mutations of keratin 9 (KRT9) gene in a big Chinese family with epidermolytic palmoplantar keratoderma(EPPK) combined with knuckle-pad-like lesions and nail lesions. METHODS: Genomic DNA from peripheral blood of all available members in this family and 50 unrelated healthy individuals was used for amplification of the whole coding sequence and the intron-exon boundaries of KRT9 gene by PCR; The mutation was detected by direct sequence analysis and identified by restriction endonuclease Dde I. RESULTS: A mutation of AAT>AGT at codon 160 (N160S) was found in all patients but not in unaffected family members and 50 controls. CONCLUSION: The mutation of AAT>AGT at codon 160 (N160S) is the disease-causing mutation in this Chinese pedigree with EPPK.
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