Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
Nuclear envelopathies are a group of diseases caused by genetic mutations in essential nuclear envelope genes. Here, the authors report a nuclear envelopathy with a homozygous nonsense variant in TOR1AIP1 which leads to changes in the nuclear morphology including large nuclear-spanning channels in p...
Main Authors: | , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2019-02-01
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Series: | Nature Communications |
Online Access: | https://doi.org/10.1038/s41467-019-08493-7 |