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A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region?

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....

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Publication status:
Published

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Publisher copy:
10.1007/bf00284721

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Kunkel, LM More by this author
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

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