A novel missense mutation in Isca2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4
Bibliographic Data
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 · Disease · Exome · Exome sequencing · Gene · Genetic testing · Leukodystrophy · Missense mutation · Mitochondrial disease · Mitochondrial DNA · Mutation · Pathology · RNA · RNA splicing · Medicine · Metalloenzymes and iron-sulfur proteins · Mitochondrial Function and Pathology · RNA modifications and cancer · Genetics
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