ArticleJIMD reports2015

Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene.

Dezső David et al.PubMed ↗Full text ↗Publisher ↗

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