Duplication mutations in particular are very difficult ... If direct DNA sequencing fails to identify two mutations, we will reflex the sample to targeted gene CGH array analysis for the gene ...

Our data show that combining a full deletion/duplication screen with CSCE will detect a mutation in 98% of Duchenne ... of PCR product from the normal male sample for all 12 multiplexes and ...

There was no PET imaing for the fourth individual. Individuals with C9ORF72 repeat expansions, APP duplication, or mutations in APP, PSEN1, or PSEN2 were not included in this study. The 17q21.31 ...

For example ... That would make it look like the duplication happened in their shared ancestor, even though the two lineages converged on the same mutations of their own accord.

Gene duplication is very important for the evolution ... However, when genes are accidentally duplicated, a beneficial mutation can be created while the original gene continues to function.

Biologists are uncovering thousands of examples of how mutations lead to new traits ... each can evolve in separate directions. The duplication of genes or even entire genomes is turning out ...

The FDA granted breakthrough therapy designation to quizartinib for the treatment of patients with relapsed/refractory acute myeloid leukemia with a FLT3 internal tandem duplication mutation.