Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.

doi:10.1007/BF00230227

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Article

Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.

Human genetics - 1 Mar 1993

Barth M L, Fensom A, Harris A

Abstract excerpt

The frequency of two common disease-associated mutations in the arylsulphatase A (ASA) gene, and of a mutation causing ASA pseudodeficiency, have been established in metachromatic leukodystrophy patients diagnosed in our laboratory. A total of 37 mutant genes have been analysed. The G-->A change...

Topics

Adenosine
Adult
Age Factors
Base Sequence
Cerebroside-Sulfatase
Child
Cytosine
Exons
Guanosine
Humans
Leukodystrophy, Metachromatic
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Prevalence
Thymidine
United Kingdom

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