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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Detalles Bibliográficos
Autores principales: Kim, Young A, Kim, Yoo-Mi, Lee, Yun-Jin, Cheon, Chong Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752642/
https://www.ncbi.nlm.nih.gov/pubmed/29302266
http://dx.doi.org/10.3345/kjp.2017.60.12.408

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752642/
https://www.ncbi.nlm.nih.gov/pubmed/29302266
http://dx.doi.org/10.3345/kjp.2017.60.12.408

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