Article
Optimization of long-range PCR protocol to prepare filaggrin exon 3 libraries for PacBio long-read sequencing.
Molecular biology reports - 1 Apr 2023
Mareso Chiara, Albion Elena, Cozza William, Tanzi Benedetta, Cecchin Stefano, Gisondi Paolo, Michelini Sandro, Bellinato Francesco, Michelini Serena, Michelini Silvia, Bertelli Matteo, Marceddu Giuseppe
Abstract excerpt
BACKGROUND: The filaggrin (FLG) protein, encoded by the FLG gene, is an intermediate filament-associated protein that plays a crucial role in the terminal stages of human epidermal differentiation. Loss-of-function mutations in the FLG exon 3 have been associated with skin diseases. The identification of causative mutations is challenging, due to the high sequence homology within its exon 3 (12,753 bp), which...
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