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: Tummala, Hemanth, Kirwan, Michael, Walne, Amanda J., Hossain, Upal, Jackson, Nicholas, Pondarre, Corinne, Plagnol, Vincent, Vulliamy, Tom, Dokal, Inderjeet
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2014
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Article
Online adgang: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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