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Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease. |
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| Authors: | O Vasconcelos K Sivakumar M C Dalakas M Quezado J Nagle M Leon-Monzon M Dubnick D C Gajdusek L G Goldfarb |
| Affiliation: | Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. |
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