Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.
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.
Luyten
J A
JA
Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, The Netherlands.
Wenink
P W
PW
Steenbergen-Spanjers
G C
GC
Wevers
R A
RA
Ploos van Amstel
H K
HK
de Jong
J G
JG
van den Heuvel
L P
LP
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*
D002553:Cerebroside-Sulfatase