- Title:
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
- Author(s):
- Koch, Johannes; Freisinger, Peter; Feichtinger, René G; Zimmermann, Franz A; Rauscher, Christian; Wagentristl, Hans P; Konstantopoulou, Vassiliki; Seidl, Rainer; Haack, Tobias B; Prokisch, Holger; Ahting, Uwe; Sperl, Wolfgang; Mayr, Johannes A; Maier, Esther M
- Journal title:
- Orphanet Journal of Rare Diseases
- Year:
- 2015
- Journal volume:
- 10
- Journal issue:
- 1
- Fulltext / DOI:
- doi:10.1186/s13023-015-0254-5
- Publisher:
- Springer Nature
- E-ISSN:
- 1750-1172
- Date of publication:
- 02.04.2015
- BibTeX