The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation
Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reporte...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Korean Pediatric Society,
2017-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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