Population frequency of the arylsulphatase A pseudo-deficiency allele.

doi:10.1007/BF01213099

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Article

Population frequency of the arylsulphatase A pseudo-deficiency allele.

Human genetics - 1 May 1991

Nelson P V, Carey W F, Morris C P

Abstract excerpt

The enzymatic diagnosis of metachromatic leukodystrophy is complicated by the frequent occurrence of the pseudo-deficiency of arylsulphatase A (ASA) enzyme activity. An A to G nucleotide transition in the first polyadenylation signal of the ASA gene results in the loss of its major mRNA species a...

Topics

Alleles
Australia
Cerebroside-Sulfatase
Gene Amplification
Gene Frequency
Heterozygote
Humans
Mutation

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