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Publication : Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.

First Author  Monaco AP Year  1986
Journal  Nature Volume  323
Issue  6089 Pages  646-50
PubMed ID  3773991 Mgi Jnum  J:8456
Mgi Id  MGI:56922 Doi  10.1038/323646a0
Citation  Monaco AP, et al. (1986) Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323(6089):646-50
abstractText  Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) are human X-linked muscle-wasting disorders that have been localized to the band Xp21 by genetic linkage analysis and cytologically detectable abnormalities. A cloned DNA segment, DXS164 (or pERT87), has been shown to detect deletions in the DNA of unrelated DMD and BMD males. Here we present the nucleotide sequence of two highly conserved DNA fragments from the DXS164 locus and their homologous sequences from the mouse X chromosome. One of the human conserved segments hybridized to a large transcript in RNA isolated from human fetal skeletal muscle and was used to isolate cDNA clones which cover approximately 10% of this transcript. The cDNA clones map to Xp21 and hybridize with a minimum of eight small regions that span 130 kilobases (kb) of the DXS164 locus. These expressed sequences are candidates for portions of the gene responsible for both DMD and BMD.
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