Lo Ten Foe, J R

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