|
| Status |
Public on Nov 25, 2015 |
| Title |
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency |
| Organism |
Homo sapiens |
| Experiment type |
SNP genotyping by SNP array
Genome variation profiling by SNP array
|
| Summary |
This SuperSeries is composed of the SubSeries listed below.
|
| |
|
| Overall design |
Refer to individual Series
|
| |
|
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| |
| Submission date |
Nov 24, 2015 |
| Last update date |
Nov 27, 2018 |
| Contact name |
Raif S. Geha |
| Organization name |
Boston Children's Hospital
|
| Department |
Division of Immunology
|
| Lab |
Geha Laboratory
|
| Street address |
1 Blackfan Circle, Karp 10
|
| City |
Boston |
| State/province |
MA |
| ZIP/Postal code |
02115 |
| Country |
USA |
| |
|
| Platforms (1) |
| GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
|
| Samples (36)
|
|
| This SuperSeries is composed of the following SubSeries: |
| GSE75314 |
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family A) |
| GSE75349 |
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family B) |
|
| Relations |
| BioProject |
PRJNA303996 |
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