title: Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy.
authors.affiliation: Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
authors.forename: Yehani
authors.initials: Y
authors.lastname: Wedatilake
authors.forename: Vincent
authors.initials: V
authors.lastname: Plagnol
authors.forename: Glenn
authors.initials: G
authors.lastname: Anderson
authors.forename: Simon M L
authors.initials: SM
authors.lastname: Paine
authors.forename: Peter T
authors.initials: PT
authors.lastname: Clayton
authors.forename: Thomas S
authors.initials: TS
authors.lastname: Jacques
authors.forename: Shamima
authors.initials: S
authors.lastname: Rahman
mesh_terms: D000293:Adolescent; D002265:Carboxylic Ester Hydrolases / Q000235:genetics; D006801:Humans; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000473:pathology*; D018482:Muscle, Skeletal / Q000473:pathology*
chemical_list: D002265:Carboxylic Ester Hydrolases; C576043:SERAC1 protein, human