FIELD: medicine.
SUBSTANCE: invention relates to the field of medicine. A test system for the diagnosis of pathogenic variants in the ASPA gene associated with Canavan disease has been proposed.
EFFECT: invention provides the creation of a test system for the diagnosis of pathogenic variants NC_000017.10: g.3392637G> T, NM_000049.2: c.634 + 1G> T, NC_000017.10: g.3402327C> A, NM_000049.2: c.857C> A, p.Ala286Asp in the ASPA gene with a dual detection system - direct and indirect.
1 cl, 1 ex
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