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An 84bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA

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Journal of Inherited Metabolic Disease

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References

  • Ohura T, Narisawa K, Tada K (1991) Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients. Hum Genet 87: 41–44.

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Ohura, T., Narisawa, K., Tada, K. et al. An 84bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA. J Inherit Metab Dis 22, 676–677 (1999). https://doi.org/10.1023/A:1005506819699

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  • DOI: https://doi.org/10.1023/A:1005506819699

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