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Molecular Medicine
Found: 2
Introduction. Mass genotyping, aimed both at identifying of genetic characteristics of populations and the creation of genomic libraries, scientific research, was implemented on large samples, required the accumulation and/or conservation of samples of the bio…
Introduction. Glycogen storage disease (GSD) type Ib is caused by mutations in the SLC37A4 gene. The aim of the study. To verify the diagnosis by molecular genetic studies. Patient. Child at the age of 5 years and 8 months with severe hepatomegaly, nephromegal…