Abstract
Sequencing of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient showed the presence of a 12-bp deletion in exon 2. This deletion was found in a compound heterozygous state with the previously described 287 C-->T transition.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Cerebroside-Sulfatase / chemistry
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Cerebroside-Sulfatase / genetics*
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Cerebroside-Sulfatase / metabolism
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Exons / genetics
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Genes, Recessive / genetics
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Humans
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Infant
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Leukodystrophy, Metachromatic / enzymology
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Leukodystrophy, Metachromatic / genetics*
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Male
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Molecular Sequence Data
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Point Mutation / genetics
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Polymorphism, Single-Stranded Conformational
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Protein Structure, Secondary
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Sequence Deletion / genetics*