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Heterozygous mutation in 5’-untranslated region of sepiapterin reductase gene(SPR)in a patient with dopa-responsive dystonia

✍ Scribed by Daniela Steinberger; Nenad Blau; Dimitri Goriuonov; Juliane Bitsch; Michael Zuker; Sibylla Hummel; Ulrich Müller

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation in 5′ upstream region of GCHI g

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A novel missense mutation of the GTP cyc

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Lack of pathogenic mutations in the 5′-u

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Mutation of a Nuclear Respiratory Factor

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The type of mutation in the low density

✍ Karen E Heath; Vilmundur Gudnason; Steve E Humphries; Mary Seed 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 190 KB