Hanan AlQudairy
Dados Biográficos
| ID | 7959387 |
|---|---|
| NOME | Hanan AlQudairy |
| PRENOMES | Hanan |
| SOBRENOME | AlQudairy |
| ASSINATURA | ALQUDAIRY H |
| AFILIAÇÕES | King Faisal Specialist Hospital & Research Centre |
| VERIFICADO | Não |
| TOTAL DE OBRAS | 1 |
| TOTAL DE CITAÇÕES | 0 |
| OBRAS COMO AUTOR | 1 |
| OBRAS COMO EDITOR | 0 |
| PRIMEIRO ANO DE PUBLICAÇÃO | 2024 |
| ANO MAIS RECENTE DE PUBLICAÇÃO | 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
Sem obras proeminentes nesta 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)