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Journal article

Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13.

Abstract:

The mutation that underlies the autosomal recessive disorder spinal muscular atrophy (SMA) is located on chromosome 5q13. Recent studies show that SMA patients frequently have deletions and rearrangements in this region compared to normal controls. During the isolation of candidate cDNAs for the disease, we identified a sequence that shows high homology to the THE-1 retrotransposon gene family. Using YAC fragmentation techniques, we have refined the localization of this sequence to the domain...

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Publication status:
Published

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Publisher copy:
10.1006/geno.1995.1059

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
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Journal:
Genomics
Volume:
27
Issue:
2
Pages:
366-369
Publication date:
1995-05-05
DOI:
EISSN:
1089-8646
ISSN:
0888-7543
URN:
uuid:f0a454a2-bb55-4a1f-81b1-0f297144d560
Source identifiers:
19958
Local pid:
pubs:19958

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