Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene.
Eng
Barry
B
Heshka
Tim
T
Tarnopolsky
Mark A
MA
Nakamura
Lisa M
LM
Nowaczyk
Małgorzata J M
MJ
Waye
John S
JS
D001483:Base Sequence; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D008969:Molecular Sequence Data
D002553:Cerebroside-Sulfatase