| http://purl.uniprot.org/citations/7557965 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7557965 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7557965 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the common gamma chain (gamma c or IL2RG) of the interleukin-2, -4, -7, -9 and -15 receptors have been found to cause X-linked severe combined immunodeficiency (SCIDX1). We report here on the mutations identified in a further ten families. Two of the mutations identified have occurred twice in unrelated families, indicating two possible mutational hotspots. Seven of the mutations, which were identified by single-strand conformational polymorphism (SSCP) analysis, are point mutations, and the eighth is a small deletion. We also report on the first use of assays based on these mutations within IL2RG for unambiguous carrier determination. The consequences for the gamma c proteins produced as a result of these mutations are discussed."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf00191801"xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf00191801"xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Jones A.M."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Jones A.M."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Lester T."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Lester T."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Kinnon C."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Kinnon C."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Clark P.A."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Clark P.A."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Genet S."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Genet S."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Hendriks R."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Hendriks R."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Levinsky R.L."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/author | "Levinsky R.L."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/pages | "427-432"xsd:string |
| http://purl.uniprot.org/citations/7557965 | http://purl.uniprot.org/core/pages | "427-432"xsd:string |