Genotyping of Italian patients with Behçet syndrome identified two novel ERAP1 polymorphisms using sequencing-based approach.

Maria Carmela Padula,Pietro Leccese,Nancy Lascaro,Teresa Carbone,Michele Gilio,Angela Anna Padula,Giuseppe Martelli,Salvatore D'Angelo

Human Immunology（2019）

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摘要

The endoplasmic reticulum aminopeptidase protein 1 gene (ERAP1) is related to several human diseases, including Behçet syndrome (BS), a multisystemic disorder with unknown etiology. ERAP1 is involved in immune response and its role can be influenced by gene single nucleotide variations (SNVs).

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关键词

BS,ERAP1,HC,HCA,HGVS,HLA,ISG,PCR,PolyPhen-2,SIFT,SNVs

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