FIELD: genetic testing.
SUBSTANCE: described is a method for pre-implantation genetic testing of Smith-Lemli-Opitz syndrome, providing for the detection of inheritance of pathogenic variants NC_000011.9:g.711524470T (NM_001360.2:c.452G>A, p.Trp151Ter) in gene DHCR7, including double detection system – direct and indirect.
EFFECT: development of a test system for diagnosing a pathogenic variant NC_000011_9:g_71152447C>T (NM_001360_2:c_452G>A, p_Trp151Ter) in gene DHCR7 with dual detection system – direct and indirect.
1 cl, 2 tbl, 1 ex
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|
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| METHOD FOR PRE-IMPLANTATION GENETIC TESTING OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY | 2021 |
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RU2810751C1 |
