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SHORT REPORT: Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency

✍ Scribed by B.A. Barshop; W.L. Nyhan; C. Climent; V. Rubio

No coin nor oath required. For personal study only.

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Influence of dose and age on the respons

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Heterozygosity for an in-frame deletion

✍ Bross, Peter; Frederiksen, Jane B.; Bie, Anne S.; Hansen, Jakob; Palmfeldt, Joha 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 456 KB

Detection of two variants of complement

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