| Title |
Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R? chain gene by single-strand conformation polymorphism analysis
|
|---|---|
| Published in |
Human Genetics, October 1995
|
| DOI | 10.1007/bf00191801 |
| Pubmed ID | |
| Authors |
PaulaA. Clark, Tracy Lester, Sally Genet, AlisonM. Jones, Rudi Hendriks, RolandJ. Levinsky, Christine Kinnon |
| Abstract |
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. |
Mendeley readers
The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 9 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 33% |
| Other | 2 | 22% |
| Professor > Associate Professor | 1 | 11% |
| Student > Postgraduate | 1 | 11% |
| Student > Master | 1 | 11% |
| Other | 0 | 0% |
| Unknown | 1 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 4 | 44% |
| Biochemistry, Genetics and Molecular Biology | 3 | 33% |
| Immunology and Microbiology | 1 | 11% |
| Unknown | 1 | 11% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 15 February 2021.
All research outputs
#7,453,479
of 22,786,691 outputs
Outputs from Human Genetics
#933
of 2,951 outputs
Outputs of similar age
#7,084
of 24,255 outputs
Outputs of similar age from Human Genetics
#2
of 15 outputs
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