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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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| Main Authors: | , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Elsevier
2014
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| 主題: | |
| 在線閱讀: | 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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