Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles.

doi:10.1002/(sici)1096-8628(19971128)73:1<32::aid-ajmg7>3.0.co;2-r

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Article

Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles.

American journal of medical genetics - 28 Nov 1997

Coulter-Mackie M, Gagnier L

Abstract excerpt

Linkage disequilibrium exists between metachromatic leukodystrophy (MLD) and pseudodeficiency mutations and selected polymorphisms within the arylsulfatase A gene. We have identified 2 new polymorphic NlaIII sites, NlaIII1 and NlaIII2, in the gene that, when used in combination with the known Bsr...

Topics

Alleles
Cerebroside-Sulfatase
Deoxyribonucleases, Type II Site-Specific
Haplotypes
Humans
Leukodystrophy, Metachromatic
Mutation
Polymorphism, Genetic

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