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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

Abstract:

Deletions giving rise to Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) occur in the same large gene on the short arm of the human X chromosome. We present a molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions of the same gene locus. The model is based on the breakpoints of intragenic deletions and their effect on the translation of triplet codons into amino acids of the protein produ...

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
Journal:
Genomics
Volume:
2
Issue:
1
Pages:
90-95
Publication date:
1988-01-01
DOI:
EISSN:
1089-8646
ISSN:
0888-7543
Source identifiers:
115645
Language:
English
Keywords:
Pubs id:
pubs:115645
UUID:
uuid:1222f813-903d-48f0-aef0-b2fe0662f8cd
Local pid:
pubs:115645
Deposit date:
2012-12-19

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