Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia by Edvardson Simon, Shaag Avraham, Kolesnikova Olga, Gomori John Moshe, Tarassov Ivan, Einbinder Tom, Saada Ann, Elpeleg Orly in American journal of human genetics (2007).

[PMID: 17847012] PubMed

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