Journal article
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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- Publisher copy:
- 10.1016/0888-7543(88)90113-9
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Authors
Bibliographic Details
- Journal:
- Genomics
- Volume:
- 2
- Issue:
- 1
- Pages:
- 90-95
- Publication date:
- 1988-01-01
- DOI:
- EISSN:
-
1089-8646
- ISSN:
-
0888-7543
- Source identifiers:
-
115645
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:115645
- UUID:
-
uuid:1222f813-903d-48f0-aef0-b2fe0662f8cd
- Local pid:
- pubs:115645
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 1988
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