| http://purl.uniprot.org/citations/8490660 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8490660 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8490660 | http://www.w3.org/2000/01/rdf-schema#comment | "The T-cell receptor (TCR) is composed of two glycoproteins (alpha and beta or gamma and delta) associated with four invariant polypeptides (CD3-gamma, delta, epsilon and zeta). The majority of TCR/CD3 complexes contain six polypeptide chains, and although there is some flexibility in the complex subunit stoichiometry the CD3-epsilon chain is central to CD3 core assembly and full complex formation. We have described previously defective expression of the TCR/CD3 complex in an immunodeficient child. We now report that two independent CD3-epsilon gene mutations present in the parents have segregated in the patient, leading to defective CD3-epsilon chain synthesis and preventing normal association and membrane expression of the TCR/CD3 complex."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0193-77"xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0193-77"xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/author | "Le Deist F."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/author | "Le Deist F."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/author | "Lisowska-Grospierre B."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/author | "Lisowska-Grospierre B."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/author | "Soudais C."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/author | "Soudais C."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/author | "de Villartay J.P."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/author | "de Villartay J.P."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/pages | "77-81"xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/pages | "77-81"xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/title | "Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/title | "Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency."xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/volume | "3"xsd:string |
| http://purl.uniprot.org/citations/8490660 | http://purl.uniprot.org/core/volume | "3"xsd:string |