Khaled O Alahmadi
Biographic Data
| ID | 7959388 |
|---|---|
| NAME | Khaled O Alahmadi |
| GIVEN NAMES | Khaled |
| FAMILY NAME | O Alahmadi |
| SIGNATURE | ALAHMADI K O |
| AFFILIATIONS | King Faisal Specialist Hospital & Research Centre |
| VERIFIED | No |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2024 |
| LATEST PUBLICATION YEAR | 2024 |
| H-INDEX | 0 |
A novel missense mutation in Isca2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4
Our analyses revealed that the variant is pathogenic, disrupting normal ISCA2 splicing and presumably leading to a truncated protein that disturbs metabolic pathways in patient-derived cells
No prominent works on this page.
A novel missense mutation in Isca2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4
Our analyses revealed that the variant is pathogenic, disrupting normal ISCA2 splicing and presumably leading to a truncated protein that disturbs metabolic pathways in patient-derived cells
Biology (1 work) · Disease (1 work) · Exome (1 work) · Exome sequencing (1 work) · Gene (1 work) · Genetic testing (1 work) · Genetics (1 work) · Leukodystrophy (1 work) · Medicine (1 work) · Metalloenzymes and iron-sulfur proteins (1 work)