Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia
Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia
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Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
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Publisher
United States: American Society for Clinical Investigation
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Scope and Contents
Contents
The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of DNA damage by homologous recombination (HR). Here we have shown that an RFWD3 mutation within the WD40 domain is connected to the genetic disease Fanconi anemia (FA). An individual presented with congenital abnormalities characteristic of FA. Cells from the pati...
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Full title
Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5531404
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5531404
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI92069
