Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.

Abstract excerpt

Fanconi anemia (FA) is a genetically and phenotypically heterogeneous disorder defined by cellular hypersensitivity to DNA cross-linking agents; mutations in the gene defective in FA complementation group C, FAC, are responsible for the syndrome in a subset of patients. We have performed an analysis of the clinical effects of specific mutations in the FAC gene. Using the amplification refractory mutation system...

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