Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy.

Abstract excerpt

Two novel mutations in the arylsulfatase A (ASA) gene from a Japanese patient with the late-infantile form of metachromatic leukodystrophy (MLD) were identified. One mutation was a G to C transversion at nucleotide 608 of the ASA gene (designated 608C) located at the 3' end of exon 2, which resulted in an amino acid substitution of Gln 153 to His. Although the 608 mutation resulted in a change in the exon-intron...

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