PMC:5590178 / 811-1209 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T2","span":{"begin":96,"end":112},"obj":"Phenotype"}],"attributes":[{"id":"A2","pred":"hp_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/HP_0001288"}],"text":"We found a GFAP mutation (c.382G \u003e A, p.Asp128Asn) in a 68-year-old man with slowly progressive gait disturbance with tendency to fall. The patient was tentatively diagnosed with AxD based on clinical and radiological findings. To develop a vertebrate model to assess the aggregation tendency of GFAP, we expressed several previously reported mutant GFAPs and p.Asp128Asn GFAP in zebrafish embryos."}