PMC:5590178 / 7657-7995 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T31","span":{"begin":55,"end":71},"obj":"Phenotype"}],"attributes":[{"id":"A31","pred":"hp_id","subj":"T31","obj":"http://purl.obolibrary.org/obo/HP_0001288"}],"text":"We saw a patient who presented with slowly progressive gait disturbance and a missense mutation in the GFAP, and made a tentative diagnosis of AxD based on clinical and radiological findings. To determine whether the mutation is disease-causing, we set out to develop a zebrafish model that would be useful for molecular diagnosis of AxD."}