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Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome
INTRODUCTION: Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. METHODS: We applied WES for a patient presenting 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L) syndrome. Then Sanger sequencing w...
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| Publicat a: | Basic Clin Neurosci |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Iranian Neuroscience Society
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7878045/ https://ncbi.nlm.nih.gov/pubmed/33613893 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.32598/bcn.9.10.455 |
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