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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
1991-9-6
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pubmed:abstractText |
We identified a patient suffering from late infantile metachromatic leukodystrophy who genetically seemed to be homozygous for the mutations signifying the arylsulfatase A pseudodeficiency allele. Homozygosity for the pseudodeficiency allele is associated with low arylsulfatase A activity but does not cause a disease. Analysis of the arylsulfatase A gene in this patient revealed a C----T transition in exon 2, causing a Ser 96----Phe substitution in addition to the sequence alterations causing arylsulfatase A pseudodeficiency. Although this mutation was found only in 1 of 78 metachromatic leukodystrophy patients tested, five more patients were identified who seemed hetero- or homozygous for the pseudodeficiency allele. The existence of nonfunctional arylsulfatase A alleles derived from the pseudodeficiency allele calls for caution when the diagnosis of arylsulfatase A pseudodeficiency is based solely on the identification of the mutations characterizing the pseudodeficiency allele.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/1678251-1670590,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1678251-1671769,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1678251-1674246,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1678251-1975241,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1678251-2562955,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1678251-2565866,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1678251-2574462,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1678251-3027659,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1678251-3220255,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1678251-5110535,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1678251-6104322,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1678251-6132516,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1678251-6143719
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
49
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
407-13
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:1678251-Alleles,
pubmed-meshheading:1678251-Amino Acid Sequence,
pubmed-meshheading:1678251-Base Sequence,
pubmed-meshheading:1678251-Cells, Cultured,
pubmed-meshheading:1678251-Cerebroside-Sulfatase,
pubmed-meshheading:1678251-Exons,
pubmed-meshheading:1678251-Female,
pubmed-meshheading:1678251-Genotype,
pubmed-meshheading:1678251-Homozygote,
pubmed-meshheading:1678251-Humans,
pubmed-meshheading:1678251-Leukodystrophy, Metachromatic,
pubmed-meshheading:1678251-Male,
pubmed-meshheading:1678251-Molecular Sequence Data,
pubmed-meshheading:1678251-Mutation,
pubmed-meshheading:1678251-Pedigree,
pubmed-meshheading:1678251-Polymerase Chain Reaction
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pubmed:year |
1991
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pubmed:articleTitle |
Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.
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pubmed:affiliation |
Department of Biochemistry II, Georg-August-University, Göttingen, Germany.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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