Article
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.
Nature genetics - 1 Jun 1993
Whitney M A, Saito H, Jakobs P M, Gibson R A, Moses R E, Grompe M
Abstract excerpt
Fanconi anaemia is an autosomal recessive disease for which four known complementation groups exist. Recently, the gene defective in complementation group C (FACC) has been cloned. In order to determine the fraction of Fanconi anaemia caused by FACC mutations, we used reverse transcription PCR an...
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