| http://purl.uniprot.org/citations/7883965 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7883965 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7883965 | http://www.w3.org/2000/01/rdf-schema#comment | "Clinical and immunologic features of a recently recognized X-linked combined immunodeficiency disease (XCID) suggested that XCID and X-linked severe combined immunodeficiency (XSCID) might arise from different genetic defects. The recent discovery of mutations in the common gamma chain (gamma c) gene, a constituent of several cytokine receptors, in XSCID provided an opportunity to test directly whether a previously unrecognized mutation in this same gene was responsible for XCID. The status of X chromosome inactivation in blood leukocytes from obligate carriers of XCID was determined from the polymorphic, short tandem repeats (CAG), in the androgen receptor gene, which also contains a methylation-sensitive HpaII site. As in XSCID, X-chromosome inactivation in obligate carriers of XCID was nonrandom in T and B lymphocytes. In addition, X chromosome inactivation in PMNs was variable. Findings from this analysis prompted sequencing of the gamma c gene in this pedigree. A missense mutation in the region coding for the cytoplasmic portion of the gamma c gene was found in three affected males but not in a normal brother. Therefore, this point mutation in the gamma c gene leads to a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci117765"xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci117765"xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Berg M."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Berg M."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Dave S.K."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Dave S.K."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Noguchi M."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Noguchi M."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Denney R.M."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Denney R.M."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Leonard W.J."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Leonard W.J."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Brooks E.G."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Brooks E.G."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Goldman A.S."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Goldman A.S."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Rudloff H.E."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Rudloff H.E."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Schmalstieg F.C."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/author | "Schmalstieg F.C."xsd:string |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7883965 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |