A novel multiplex analysis of filaggrin polymorphisms: A universally applicable method for genotyping

Michael Meldgaard, Pal B Szecsi, Berit C Carlsen, Jacob P Thyssen, Jeanne D Johansen, Torkil Menné, Steen Stender

52 Citationer (Scopus)

Abstract

The filaggrin protein is expressed as profilaggrin mainly in stratum granulosum cells of the epidermis. The profilaggrin gene codes for 10-12 filaggrin repeats. The filaggrin protein is important for skin barrier function. Filaggrin deficiency due to functional null-polymorphisms affects 8-10% of the people in Northern Europe and is a strong risk factor for several diseases. Here, we describe a novel method for efficient, multiplexed genotyping of variations in the profilaggrin gene.
OriginalsprogEngelsk
TidsskriftClinica Chimica Acta
Vol/bind413
Udgave nummer19-20
Sider (fra-til)1488-92
Antal sider5
ISSN0009-8981
DOI
StatusUdgivet - 2012

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