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  • Title: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
    Author: Sun X, Yin XZ, Wu LQ, Shi XL, Hu ZM, Liu XP, Pan Q, Dai HP, Xia K, Xia JH.
    Journal: Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2005 Oct; 30(5):521-4. PubMed ID: 16320579.
    Abstract:
    OBJECTIVE: To identify the gene causing diffuse palmoplantar keratoderma in a Chinese pedigree. METHODS: Four normal individuals and 3 patients in a diffuse palmoplantar keratoderma family and 10 unrelated control samples were recruited. The hotspot of the mutations of keratin 9 gene was analyzed by polymerase chain reaction and direct sequencing. RESULTS: We found a G485A transition in ke ratin 9 gene, resulting in the substitution of glutamine for arginine at codon 162 in this diffuse palmoplantar keratoderma family. The mutation was not found in the 10 unrelated control samples and 4 normal individuals. CONCLUSION: The mutation G485A found in keratin 9 gene is the disease-causing mutation in the diffuse palmoplantar keratoderma family.
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