A novel nonsynonymous variation of NLRP3 was identified in an Italian patient with Behçet syndrome using both bioinformatics and molecular methods. This variation was a thymine to guanine polymorphism responsible for the isoleucine to serine amino acid change at position 348. The novel variation was predicted to be a pathogenic allele.

Identification of a de novo NLRP3 gene variation in an Italian Behçet syndrome patient

Padula M. C.;Martelli G.;D'Angelo S.
2019-01-01

Abstract

A novel nonsynonymous variation of NLRP3 was identified in an Italian patient with Behçet syndrome using both bioinformatics and molecular methods. This variation was a thymine to guanine polymorphism responsible for the isoleucine to serine amino acid change at position 348. The novel variation was predicted to be a pathogenic allele.
2019
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11563/143729
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