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http://purl.uniprot.org/citations/10074494http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10074494http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10074494http://www.w3.org/2000/01/rdf-schema#comment"Expression of histocompatibility leukocyte antigen (HLA) class I molecules on the cell surface depends on the heterodimer of the transporter associated with antigen processing 1 and 2 (TAP1 and TAP2), which transport peptides cleaved by proteasome to the class I molecules. Defects in the TAP2 protein have been reported in two families with HLA class I deficiency, the so-called bare lymphocyte syndrome (BLS) type I. We have, to our knowledge, identified for the first time a splice site mutation in the TAP1 gene of another BLS patient. In addition, class I heavy chains (HCs) did not form the normal complex with tapasin in the endoplasmic reticulum (ER) of the cells of our patient."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.org/dc/terms/identifier"doi:10.1172/jci5335"xsd:string
http://purl.uniprot.org/citations/10074494http://purl.org/dc/terms/identifier"doi:10.1172/jci5335"xsd:string
http://purl.uniprot.org/citations/10074494http://purl.org/dc/terms/identifier"doi:10.1172/JCI5335"xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Tanaka K."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Tanaka K."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Ishikawa Y."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Ishikawa Y."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Inoue T."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Inoue T."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Watanabe K."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Watanabe K."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Yamamoto K."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Yamamoto K."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Yabe T."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Yabe T."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Tokunaga K."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Tokunaga K."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Keicho N."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Keicho N."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Murata S."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Murata S."xsd:string
http://purl.uniprot.org/citations/10074494http://purl.uniprot.org/core/author"Furukawa H."xsd:string