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Brigitte Gilbert-Dussardier, Daniel Rabier, Sandra StrautnIeks, Bertrand Segues, Jean Paul Bonnefont, Arnold Munnlch, A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern, Human Molecular Genetics, Volume 3, Issue 5, May 1994, Pages 831–832, https://doi.org/10.1093/hmg/3.5.831
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MUTATION REPORTS
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