Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

Yelena Bykhovskaya, Kari Casas, Emebet Mengesha, Aida Inbal, Nathan Fischel‐Ghodsian

The American Journal of Human Genetics · 2004 · 314 citations · 28 references

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