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Article

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.

The Journal of clinical investigation - 1 Aug 2017

Knies Kerstin, Inano Shojiro, Ramírez María J, Ishiai Masamichi, Surrallés Jordi, Takata Minoru, Schindler Detlev

Abstract excerpt

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 patient carrying the compound heterozygous mutations c.205_206dupCC...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28691929
DOI: 10.1172/JCI92069
PMCID: PMC5531404

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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