- Abstract:
-
A DNA deletion in a patient with Becker muscular dystrophy (BMD) has been delineated by restriction endonuclease mapping. The deletion is unusually small, removing six kilobases (kb) of DNA distal to pERT 87-1 (DXS164). This region has previously been shown to contain an exon of a candidate gene which, when defective, causes Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy. Removal of this exon and surrounding DNA is apparently sufficient, in this case, to cause a BMD phenotype....
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1007/bf00284721
-
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- Journal:
- Human genetics
- Volume:
- 77
- Issue:
- 1
- Pages:
- 88-91
- Publication date:
- 1987-09-05
- DOI:
- EISSN:
-
1432-1203
- ISSN:
-
0340-6717
- URN:
-
uuid:17bdac3a-8872-4533-b9d5-e885812c0d91
- Source identifiers:
-
115659
- Local pid:
- pubs:115659
- Language:
- English
- Keywords:
- Copyright date:
- 1987
Journal article
A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region?
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