Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype.

doi:10.1002/(SICI)1096-8628(19960726)67:4<387::AID-AJMG12>3.0.CO;2-F

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Article

Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype.

American journal of medical genetics - 26 Jul 1996

Ricketts M H, Goldman D, Long J C, Manowitz P

Abstract excerpt

Pseudodeficiency of arylsulfatase A is characterized by reduction of arylsulfatase A activity without neurodegeneration, making it an important complication when diagnosing metachromatic leukodystrophy. Two DNA substitutions are associated with arylsulfatase A pseudodeficiency. One, 1788A-->G, results in the loss of an N-glycosylated asparagine in the protein, and the second, 2723A-->G, removes the...

Topics

Adult
Base Sequence
Cerebroside-Sulfatase
DNA Primers
Ethnicity
Genetic Variation
Glycosylation
Haplotypes
Humans
Nuclear Family
Point Mutation
Polymerase Chain Reaction
Racial Groups
Restriction Mapping

Source

Open in PubMed

Identifiers

PMID: 8837707
DOI: 10.1002/(SICI)1096-8628(19960726)67:4<387::AID-AJMG12>3.0.CO;2-F

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