Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency
This article reports the characterization of two siblings diagnosed with late-onset multiple Acyl-CoA dehydrogenase deficiency (MADD) caused by mutations in electron transfer flavoprotein(ETF)-ubiquinone oxidoreductase (ETF-QO) (ETFDH) gene. Whole exome sequencing (WES) was performed in the proband&...
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| Автори: | , , , |
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| Формат: | Книга |
| Опубліковано: |
Frontiers Media S.A.,
2023-01-01T00:00:00Z.
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Connect to this object online.3rd Floor Main Library
| Шифр: |
A1234.567 |
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| Примірник 1 | Доступно |