title: Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.
abstract: A 53-year-old man was diagnosed 8 years earlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC) activity. He was found to have eight nucleotide changes on the two copies of his GALC gene, including two in the leader sequence, four considered polymorphisms, and two unique mutations.
authors.affiliation: Department of Medicine, Jefferson Medical College, Philadelphia, PA 19107, USA.
authors.forename: P
authors.initials: P
authors.lastname: Luzi
authors.forename: M A
authors.initials: MA
authors.lastname: Rafi
authors.forename: D A
authors.initials: DA
authors.lastname: Wenger
mesh_terms: D001921:Brain / Q000503:physiopathology; D005698:Galactosylceramidase / Q000172:deficiency*; D015870:Gene Expression; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011110:Polymorphism, Genetic / Q000235:genetics; D012333:RNA, Messenger
chemical_list: D012333:RNA, Messenger; D005698:Galactosylceramidase