Article
Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A.
American journal of human genetics - 1 Sept 2000
Joenje H, Levitus M, Waisfisz Q, D'Andrea A, Garcia-Higuera I, Pearson T, van Berkel C G, Rooimans M A, Morgan N, Mathew C G, Arwert F
Abstract excerpt
Fanconi anemia (FA) is an autosomal recessive disorder with diverse clinical symptoms and extensive genetic heterogeneity. Of eight FA genes that have been implicated on the basis of complementation studies, four have been identified and two have been mapped to different loci; the status of the genes supposed to be defective in groups B and H is uncertain. Here we present evidence indicating that the patient who...
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