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.
- Resource Type
- Article
- Source
- JIMD Reports Volume 23; 2015, p55-65, 11p
- Subject
- Language