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Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer

✍ Scribed by A. Boichard; L. Venet; T. Naas; A. Boutron; L. Chevret; H. Ogier de Baulny; P. De Lonlay; A. Legrand; P. Nordman; M. Brivet

Book ID
116988174
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
788 KB
Volume
93
Category
Article
ISSN
1096-7192

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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 co