Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. Hum. Mol. Genet. 1998, 6 (9): 1427–34
Nicholls TJ; et al. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.. Am J Hum Genet. 2013, 93 (2):