A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Ne...
A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Barrier-to-autointegration factor (BAF) is an essential component of the nuclear lamina. Encoded by BANF1, this DNA binding protein contributes to the regulation of gene expression, cell cycle progression, and nuclear integrity. A rare recessive BAF variant, Ala12Thr, causes the premature aging syndrome, Néstor–Guillermo progeria syndrome (NGPS). H...
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Full title
A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy
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TN_cdi_doaj_primary_oai_doaj_org_article_aa4e98a6497c4950bc2223cb46c36be8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_aa4e98a6497c4950bc2223cb46c36be8
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ISSN
2073-4409
E-ISSN
2073-4409
DOI
10.3390/cells12060847
