लोड हो रहा है...
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...
में बचाया:
| में प्रकाशित: | Korean J Pediatr |
|---|---|
| मुख्य लेखकों: | , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
The Korean Pediatric Society
2017
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5752642/ https://ncbi.nlm.nih.gov/pubmed/29302266 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2017.60.12.408 |
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