Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

doi:10.1007/s10038-003-0037-z

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Article

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

Journal of human genetics - 1 Jan 2003

Bouchlaka Chiraz, Abdelhak Sonia, Amouri Ahlem, Ben Abid Hela, Hadiji Sondes, Frikha Mounir, Ben Othman Tarek, Amri Fethi, Ayadi Hammadi, Hachicha Mongia, Rebaï Ahmed, Saad Ali, Dellagi Koussay

Abstract excerpt

Fanconi anemia (FA) is a rare autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. Fanconi anemia is genetically heterogeneous, with at least eight distinct complementation groups of FA (A, B, C, D1, D2, E, F, and G) having been defined by somatic cell fusion studies. Six genes (FANCA, FANCC, FANCD2, FANCE, FANCG, and FANCF)...

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