Article
Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.
American journal of human genetics - 1 May 1991
Kondo R, Wakamatsu N, Yoshino H, Fukuhara N, Miyatake T, Tsuji S
Abstract excerpt
To analyze the genetic abnormality in a Japanese patient with adult-type metachromatic leukodystrophy (MLD), we first elucidated the genomic organization of the human arylsulfatase A (ASA) gene and then compared the nucleotide sequences of exons and splice junctions of the mutant ASA gene to those of a normal control. We have identified a new mutation, a G-to-A transition in exon 2, which results in amino acid...
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