- 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...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1006/geno.1995.1059
-
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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
- Copyright date:
- 1995
Journal article
Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13.
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