Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.

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 thos...

Topics

Adult
Base Sequence
Blotting, Western
Cerebroside-Sulfatase
Exons
Female
Humans
Introns
Leukodystrophy, Metachromatic
Molecular Sequence Data
Mutation

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