Arginine 302 mutations in the pyruvate dehydrogenase E1α subunit gene: Identification of further patients and in vitro demonstration of pathogenicity
Author:
Affiliation:
1. Genetics Unit, Department of Biochemistry, University of Oxford, United Kingdom
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/%28SICI%291098-1004%281998%2912%3A2%3C114%3A%3AAID-HUMU6%3E3.0.CO%3B2-%23
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4. Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.
5. Pyruvate dehydrogenase deficiency caused by deletion of a 7‐bp repeat sequence in the E1α gene;Dahl H‐HM;Am J Hum Genet,1990
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