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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
1994-2-22
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pubmed:abstractText |
The GM2 activator locus (GM2A) had previously been considered as a candidate gene for some forms of spinal muscular atrophy (SMA; mapped to 5q11.2-q13.3). It was eliminated as a possible candidate because PCR-based mapping failed to localize the gene to chromosome 5, as was previously reported using an ELISA-based methodology. However, we demonstrated that the PCR primers used preferentially amplified a processed pseudogene (GM2AP) that we mapped to chromosome 3 and that GM2A was located on chromosome 5. In this report, we reconsider the candidacy of GM2A by refining its localization on chromosome 5 using fluorescence in situ hybridization. We localize GM2A to 5q31.3-q33.1; thus, it is not a candidate gene for SMA.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0888-7543
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
18
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pubmed:geneSymbol |
GM2A,
GM2AP
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
429-31
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:8288250-Cells, Cultured,
pubmed-meshheading:8288250-Chromosome Mapping,
pubmed-meshheading:8288250-Chromosomes, Human, Pair 5,
pubmed-meshheading:8288250-DNA Primers,
pubmed-meshheading:8288250-G(M2) Activator Protein,
pubmed-meshheading:8288250-G(M2) Ganglioside,
pubmed-meshheading:8288250-Humans,
pubmed-meshheading:8288250-In Situ Hybridization, Fluorescence,
pubmed-meshheading:8288250-Muscular Atrophy, Spinal,
pubmed-meshheading:8288250-Polymerase Chain Reaction,
pubmed-meshheading:8288250-Proteins,
pubmed-meshheading:8288250-Pseudogenes
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pubmed:year |
1993
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pubmed:articleTitle |
Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus.
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pubmed:affiliation |
Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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