Defects in RNA splicing and the consequence of shortened translational reading frames.
Maquat
L E
LE
D017398:Alternative Splicing; D001483:Base Sequence; D018389:Codon, Nonsense; D030342:Genetic Diseases, Inborn / Q000209:etiology; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D014176:Protein Biosynthesis; D012322:RNA Precursors / Q000378:metabolism; D012326:RNA Splicing / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism; D016364:Reading Frames / Q000235:genetics*
D018389:Codon, Nonsense; D012322:RNA Precursors; D012333:RNA, Messenger