Article
Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control study.
Journal of human genetics - 1 Jan 2008
Enomoto Hisako, Hirata Kenji, Otsuka Kenta, Kawai Toshiharu, Takahashi Takenori, Hirota Tomomitsu, Suzuki Yoichi, Tamari Mayumi, Otsuka Fujio, Fujieda Shigeharu, Arinami Tadao, Noguchi Emiko
Abstract excerpt
Filaggrin (FLG) plays an important role in the barrier function of the skin. Several loss-of-function mutations in the FLG gene have been identified in patients with ichthyosis vulgaris, and these null mutations are associated with atopic dermatitis (AD) development. In this study, we examined tag single nucleotide polymorphisms (tSNPs) and null mutations in FLG for possible associations with AD and atopic...
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