SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6

Christine Zühlke, Matthias Spranger, S Spranger, Robert L. Voigt, Michael C. Lanz, Ulrike Gehlken, Frauke Hinrichs, E. Schwinger

European Journal of Human Genetics · 2003 · 40 citations · 18 references

DOIFull text

Open access

Concepts

References

18