Article
Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population.
Clinical and experimental dermatology - 1 Mar 2012
Xiong Z, Luo S, Xu X, Zhang L, Peng H, Li W, Xue J, Chen X, Hu Z, Xia K
Abstract excerpt
Loss-of-function mutations in the gene encoding filaggrin (FLG) can cause the semidominant keratinizing disorder ichthyosis vulgaris (OMIM 146700). To identify FLG mutations in three Chinese pedigrees with ichthyosis vulgaris, we sequenced the entire coding region of FLG in the proband of each pedigree. We found two novel FLG null mutations (c.477-478insA and c.6218-6219delAA) and a known mutation (c.3321delA)....
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