Article
Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier.
Human molecular genetics - 15 Apr 2006
Kock Norman, Naismith Teresa V, Boston Heather E, Ozelius Laurie J, Corey David P, Breakefield Xandra O, Hanson Phyllis I
Abstract excerpt
Four naturally occurring sequence variations have been found in the coding region of the DYT1 gene encoding torsinA. One of these, a 3 bp (DeltaGAG) deletion, underlies dominantly inherited cases of early-onset torsion dystonia. Others, including a single nucleotide polymorphism that replaces aspartic acid (D) at residue 216 with histidine (H) in 12% of normal alleles and two other rare deletions, have not been...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.