publication . Doctoral thesis . 2002

Genomic changes in Fanconi anemia: implications for diagnosis, pathogenesis and prognosis

Groß, Michaela;
Open Access English
  • Published: 01 Jan 2002
Fanconi anemia (FA) is a genetically and phenotypically heterogenous autoso- mal recessive disease associated with chromosomal instability, progressive bone marrow failure, typical birth defects and predisposition to neoplasia. The clinical phenotype is similar in all known complementation groups (FA-A, FA-B, FA-C,FA-D1, FA-D2, FA-E, FA-F and FA-G). The cellular phenotype is characterized by hypersensitivity to DNA crosslinking agents (MMC,DEB), which is exploited as a diagnostic tool. Alltogether, the FA proteins constitute a multiprotein pathway whose precise biochemical function(s) remain unknown. FANCA, FANCC, FANCE, FANCF and FANCG interact in a nuclear com...
free text keywords: Fanconi-Anämie, Genmutation, ddc:570
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