Article
Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
Human mutation - 1 Jan 2008
Ameziane Najim, Errami Abdellatif, Léveillé France, Fontaine Chantal, de Vries Yne, van Spaendonk Rosalina M L, de Winter Johan P, Pals Gerard, Joenje Hans
Abstract excerpt
Fanconi anemia (FA) is a recessively inherited syndrome with predisposition to bone marrow failure and malignancies. Hypersensitivity to cross-linking agents is a cellular feature used to confirm the diagnosis. The mode of inheritance is autosomal recessive (12 subtypes) as well as X-linked (one subtype). Most genetic subtypes have initially been defined as "complementation groups" by cell fusion studies. Here we...
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