Heather E. Boston

Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier (2006)

Kock, Norman, Naismith, Teresa V., Boston, Heather E., Ozelius, Laurie J., Corey, David P., Breakefield, Xandra O., ...

Four naturally occurring sequence variations have been found in the coding region of the DYT1 gene encoding torsinA. One of these, a 3 bp (ΔGAG) deletion, underlies dominantly inherited cases...

Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier (2006)

Kock, Norman, Naismith, Teresa V., Boston, Heather E., Ozelius, Laurie J., Corey, David P., Breakefield, Xandra O., ...

Four naturally occurring sequence variations have been found in the coding region of the DYT1 gene encoding torsinA. One of these, a three base pair (ΔGAG) deletion, underlies dominantly inherited...