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Subtyping Analysis of Fanconi Anemia by Immunoblotting and Retroviral Gene Transfer
1998
Molecular Medicine
Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome with at least eight complementation groups (A-H). Two of the FA genes (FAA and FAC) have been cloned, and mutations in these genes account for approximately 80% of FA patients. Subtyping of FA patients is an important first step toward identifying candidates for FA gene therapy. In the current study, we analyzed a reference group of 26 FA patients of known subtype. Most of the patients (18/26) were confirmed as either type A or type C by immunoblot analysis with
doi:10.1007/bf03401752
fatcat:ua2pfyyzencz5al4ateim2b4si