Skip to main content
Fig. 2 | BMC Medical Genomics

Fig. 2

From: Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology

Fig. 2

Single-gene inherited disease was verified by Sanger sequencing. The pathogenic variant of ARSA; NM_000487.5; c.1344_1345insC; p.Gly449Argfs*124 was inherited from mother. The pathogenic variant of ARSA; NM_000487.5; c.736C > p.Arg246Cys was inherited from father. The fetus was genetically normal and did not inherit these variants from parents

Back to article page