title: Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.
abstract: Sequencing of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient showed the presence of a 12-bp deletion in exon 2. This deletion was found in a compound heterozygous state with the previously described 287 C-->T transition.
authors.affiliation: Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, The Netherlands.
authors.forename: J A
authors.initials: JA
authors.lastname: Luyten
authors.forename: P W
authors.initials: PW
authors.lastname: Wenink
authors.forename: G C
authors.initials: GC
authors.lastname: Steenbergen-Spanjers
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: H K
authors.initials: HK
authors.lastname: Ploos van Amstel
authors.forename: J G
authors.initials: JG
authors.lastname: de Jong
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002553:Cerebroside-Sulfatase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D005091:Exons / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D017433:Protein Structure, Secondary; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D002553:Cerebroside-Sulfatase