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Nature. 1992 Apr 30;356(6372):763-7.

Cloning of cDNAs for Fanconi's anaemia by functional complementation.

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  • 1Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.

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.

PMID:
1574115
[PubMed - indexed for MEDLINE]
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