Article
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.
European journal of human genetics : EJHG - 1 Nov 2000
Demuth I, Wlodarski M, Tipping A J, Morgan N V, de Winter J P, Thiel M, Gräsl S, Schindler D, D'Andrea A D, Altay C, Kayserili H, Zatterale A, Kunze J, Ebell W, Mathew C G, Joenje H, Sperling K, Digweed M
Abstract excerpt
FANCG was the third Faconi anaemia gene identified and proved to be identical to the previously cloned XRCC9 gene. We present the pathogenic mutations and sequence variants we have so far identified in a panel of FA-G patients. Mutation screening was performed by PCR, single strand conformational polymorphism analysis and protein truncation tests. Altogether 18 mutations have been determined in 20 families - 97%...
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