A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
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 gen...
| Main Authors: | , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2008
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