
Unusual splice site mutations disrupt FANCA exon 8 definition
Keywords: NMD; nonsense-mediated mRNA decay; PTC; premature termination codon; FA; Fanconi anemia; ExSpeU1; exon specific U1; U2AF; U2 auxiliary factor; HSF; human splicing finder; Nonsense codon; Fanconi anemia; Nonsense mediated mRNA decay; U1 small nuclear ribon