Polymorphisms of Keratin 16 and 6A Genes in Two Chinese Families with Pachyonychia Congenita TypeⅠ / 中华皮肤科杂志

G (E165E) in exon 1 of KRT6A gene, were found in this patient. Conclusions A novel single nucleotide polymorphism of KRT16 gene which can result in the change of amino acid sequence is firstly reported and some known single nucleotide polymorphisms in KRT16 and KRT6A genes are also found in this study.