Improving the diagnostic yield for filaggrin: Concealed mutations in the Dutch population.

Frank S van Leersum, Ivo F Nagtzaam, Carolien N van Oosterhoud, Stijn A I Ghesquiere, Roel R H F J Brandts,Antoni Gostyński,Peter M Steijlen,Michel van Geel

The Journal of allergy and clinical immunology（2020）

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摘要

This study emphasizes screening of the entire FLG gene beyond population-specific mutations. Screening was simplified by implementing single-molecule molecular-inversion-probes and NextGeneration Sequencing. The diagnostic yield of FLG mutations increased identifying novel mutations and enhancing further research opportunities.

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