Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

2017/01/26 by Yair Anikster, Tobias B. Haack, Thierry Vilboux +46 · 25 citations
Biochemistry, Genetics and Molecular Biology · #Metabolism and Genetic Disorders #RNA modifications and cancer #Mitochondrial Function and Pathology

paper · pdf · doi:10.1016/j.ajhg.2017.01.002

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