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Defining defective DNA repair in Fanconi Anaemia

Kj Patel

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Medical Research Council (MRC)
In Fanconi anaemia (FA) defective DNA repair results in spontaneous as well as crosslink induced chromosome breakage. The clinical consequences of this are bone marrow failure as well as a greatly enhanced risk of developing haematological as well as epithelial cancers. However, the mechanism of the DNA repair involving FA proteins has been elusive. This proposal outlines genetic and biochemical approaches to define the DNA repair pathway in which the FA proteins participate.

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