Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream. [electronic resource]
- Human mutation 1998
- S25-7 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1059-7794
10.1002/humu.1380110109 doi
Adult Amino Acid Sequence Amino Acid Substitution Base Sequence DNA--chemistry DNA Mutational Analysis DNA, Complementary--chemistry Exons--genetics Fanconi Anemia--genetics Female Humans Mutation Mutation, Missense Point Mutation