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Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1
Iron-sulfur cluster assembly 1 (ISCA1) is one of the essential proteins operating in the mitochondrial iron-sulfur (Fe-S) cluster biogenesis pathway. We reported the variant c.259G > A [p.(Glu87Lys)] in homozygous state in exon 4 of the ISCA1 gene as the likely cause of multiple mitochondrial dys...
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| 出版年: | J Pediatr Genet |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Georg Thieme Verlag KG
2018
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| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6087475/ https://ncbi.nlm.nih.gov/pubmed/30105122 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1641177 |
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