Associated Papers
Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.
Voskoboeva EY et al.
Frontiers in Molecular Biosciences, 2021
Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.
Tanner AK et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.
Harvey JS et al.
Human Molecular Genetics, 1998
Metachromatic leukodystrophy: molecular genetics and an animal model.
Gieselmann V et al.
Journal of Inherited Metabolic Disease, 1998
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