Article
Filaggrin compound heterozygous patients carry mutations in trans position.
Experimental dermatology - 1 Sept 2013
Carlsen Berit C, Meldgaard Michael, Johansen Jeanne D, Thyssen Jacob P, Menné Torkil, Szecsi Pal B, Stender Steen
Abstract excerpt
More than 40 null mutations in the filaggrin (FLG) gene are described. It is therefore possible to find two different null mutations in one individual (compound heterozygosity). It has been generally perceived that homozygous and compound heterozygous individuals were genotypically comparable; ho...
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