- Abstract:
-
A nonsense mutation (c.729C>A, Y243X) in exon 7 of the PDHA1 gene in a patient with pyruvate dehydrogenase deficiency results in aberrant splicing of the primary transcript with production of stable mRNAs which lack either both exons 6 and 7 or exon 7 alone. Transfection and expression of genomic constructs covering exons 5 to 8 of the mutant PDHA1 gene reproduced this aberrant splicing in vitro. The same pattern of abnormal splicing was found when a silent mutation was introduced at the s...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1002/humu.9525
-
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- Journal:
- Human mutation
- Volume:
- 29
- Issue:
- 3
- Pages:
- 451
- Publication date:
- 2008-03-05
- DOI:
- EISSN:
-
1098-1004
- ISSN:
-
1059-7794
- URN:
-
uuid:c8a61439-c045-49f5-96cb-a28cc3dc1ecd
- Source identifiers:
-
100234
- Local pid:
- pubs:100234
- Language:
- English
- Keywords:
- Copyright date:
- 2008
Journal article
A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
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