Items where Subject is "SBCADD"
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- diseases & disorders (1)
- congenital hereditary genetic diseases (1)
- SBCADD (1)
- congenital hereditary genetic diseases (1)
- diseases & disorders (1)
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Paper
Madsen, P. P., Kibæk, M., Roca, X., Sachidanandam, R., Krainer, A. R., Christensen, E., Steiner, R. D., Gibson, K. M., Corydon, T. J., Knudsen, I., Wanders, R. J. A., Ruiter, J. P. N., Gregersen, N., Andresen, B. S. (2006) Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Human Genetics, 118 (6). pp. 680-690. ISSN 03406717