Article
Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
American journal of human genetics - 1 Nov 2000
de Winter J P, Léveillé F, van Berkel C G, Rooimans M A, van Der Weel L, Steltenpool J, Demuth I, Morgan N V, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater P A, Waisfisz Q, Komatsu K, Arwert F, Pronk J C, Mathew C G, Digweed M, Buchwald M, Joenje H
Abstract excerpt
Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome with at least seven different complementation groups. Four FA genes (FANCA, FANCC, FANCF, and FANCG) have been identified, and two other FA genes (FANCD and FANCE) have been mapped. Here we report the identification, by complementation cloning, of the gene mutated in FA complementation group E (FANCE). FANCE has 10 exons and encodes a...
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