A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.

doi:10.1007/BF00209402

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Article

A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.

Human genetics - 1 Feb 1995

Kafert S, Heinisch U, Zlotogora J, Gieselmann V

Abstract excerpt

Metachromatic leukodystrophy is a lysosomal storage disease caused by deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of an Ashkenazi Jewish patient suffering from the severe late infantile form of the disease revealed a point mutation in exon 2 causing proline 136 to be su...

Topics

Base Sequence
Cerebroside-Sulfatase
Child, Preschool
Female
Humans
Molecular Sequence Data
Mutation

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