Hanan AlQudairy
Datos Biográficos
| ID | 7959387 |
|---|---|
| NOMBRE | Hanan AlQudairy |
| NOMBRES | Hanan |
| APELLIDO | AlQudairy |
| FIRMA | ALQUDAIRY H |
| AFILIACIONES | King Faisal Specialist Hospital & Research Centre |
| VERIFICADO | No |
| TOTAL DE OBRAS | 1 |
| TOTAL DE CITAS | 0 |
| OBRAS COMO AUTOR | 1 |
| OBRAS COMO EDITOR | 0 |
| PRIMER AÑO DE PUBLICACIÓN | 2024 |
| AÑO MÁS RECIENTE DE PUBLICACIÓN | 2024 |
| ÍNDICE H | 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
Sin obras prominentes en esta página.
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 obra) · Disease (1 obra) · Exome (1 obra) · Exome sequencing (1 obra) · Gene (1 obra) · Genetic testing (1 obra) · Genetics (1 obra) · Leukodystrophy (1 obra) · Medicine (1 obra) · Metalloenzymes and iron-sulfur proteins (1 obra)