Accession |
PRJCA028445 |
Title |
Prenatal screening of the maternal drug-sensitive deafness gene A1555G |
Relevance |
Medical |
Data types |
Variation
|
Organisms |
Homo sapiens
|
Description |
The mitochondrial A1555G mutation, is considered a hotspot for mutations associated with nonsyndromic (NSHL) and aminoglycoside-induced hearing loss (AIHL). The pathogenicity of the A1555G substitution has been confirmed in numerous pedigrees of various ethnic and geographic origins and in sporadic cases and additionally by in vitro studies. |
Sample scope |
Multiisolate |
Release date |
2024-07-24 |
Grants |
Agency |
program |
Grant ID |
Grant title |
No funding support
|
|
|
|
|
Submitter |
meng
zhang (zhmeng7884@163.com)
|
Organization |
Beijing Obstetrics and Gynecology Hospital, Capital Medical University |
Submission date |
2024-07-24 |