doi: 10.1038/356763a0.
Cloning of cDNAs for Fanconi's anaemia by functional complementation
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- PMID: 1574115
- DOI: 10.1038/356763a0
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Cloning of cDNAs for Fanconi's anaemia by functional complementation
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Cloning of cDNAs for Fanconi's anaemia by functional complementation.Nature. 1992 Jul 30;358(6385):434. doi: 10.1038/358434a0. Nature. 1992. PMID: 1641028 No abstract available.
Abstract
Fanconi's anaemia is a rare autosomal recessive disorder characterized by progressive pancytopaenia and a cellular hypersensitivity to DNA crosslinking agents. Four genetic complementation groups have been identified so far, and here we use a functional complementation method to clone complementary DNAs that correct the defect of group C cells. The cDNAs encode alternatively processed transcripts of a new gene, designated FACC, which is mutated in group C patients. The predicted FACC polypeptide does not contain any motifs common to other proteins and so represents a new gene involved in the cellular response to DNA damage.
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