Zech et al., 2015 - Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia. American journal of human genetics   96(6):883-93 Full text @ Am. J. Hum. Genet.
4 Genes / Markers
Marker Type Symbol Name
Gene ano3 anoctamin 3
Gene col6a3 collagen, type VI, alpha 3
Gene gnal guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
Gene thap1 THAP domain containing, apoptosis associated protein 1