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Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100538
Abstract: With interest we read the article by Woods et al. about two brothers aged 37y and 35y with MLASA due to the novel variant c.302A>G in PUS1.[1] The two patients presented, in addition to myopathy…
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Keywords:
poly phenic;
phenic condition;
mlasa1;
mlasa1 poly ... See more keywords