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Journal article

A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.

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...

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Publication status:
Published

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Publisher copy:
10.1002/humu.9525

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Institution:
University of Oxford
Department:
Oxford, MSD, Biochemistry
Role:
Author
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

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