|
| Status |
Public on May 31, 2023 |
| Title |
Affymetrix SNP array data for an INAD patient |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
|
| Summary |
Infantile neuroaxonal dystrophy (INAD) is an ultra-rare early-onset autosomal recessive neurodegenerative disorder due to PLA2G6 variants.
Copy number analysis of SNP arrays was performed on one INAD patient sample.
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| |
|
| Overall design |
Affymetrix SNP arrays were performed according to the manufacturer's directions on DNA extracted from the patient's peripheral blood sample.
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| |
|
| Contributor(s) |
Lv Y, Qi F |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| |
| Submission date |
May 30, 2023 |
| Last update date |
Jun 02, 2023 |
| Contact name |
yongxue lv |
| E-mail(s) |
lvyongxue@126.com
|
| Organization name |
Huzhou Maternity & Child Health Care Hospital
|
| Street address |
No. 2 East Street
|
| City |
Huzhou |
| ZIP/Postal code |
313000 |
| Country |
China |
| |
|
| Platforms (1) |
| GPL18637 |
[CytoScan750K_Array] Affymetrix CytoScan 750K Array |
|
| Samples (1) |
|
| Relations |
| BioProject |
PRJNA977698 |
