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A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy
SLC25A42 is an inner mitochondrial membrane protein which has been shown to transport coenzyme A through a lipid bilayer in vitro. A homozygous missense variant in this gene has been recently reported in 13 subjects of Arab descent presenting with mitochondriopathy with variable clinical manifestati...
में बचाया:
| में प्रकाशित: | JIMD Rep |
|---|---|
| मुख्य लेखकों: | , , , , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Springer Berlin Heidelberg
2018
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6323019/ https://ncbi.nlm.nih.gov/pubmed/29923093 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_115 |
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