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ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function
Exome sequencing was performed in three index cases with bone marrow failure and neurological dysfunction and whose parents are first-degree cousins. Homozygous truncating mutations were identified in ERCC6L2 in two of the individuals. Both of these mutations affect the subcellular localization and...
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| Główni autorzy: | , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Elsevier
2014
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3928664/ https://ncbi.nlm.nih.gov/pubmed/24507776 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.01.007 |
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