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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus

Fig. 3

A Minigene splicing assay. The WT higher band represented correctly spliced exons, whereas the MT lower band represented the RYR1 deletion 105 bp in exon 21. Sequencing revealed the MT-type was missing the entire exon 21 sequence due to the c.2682G > C variant. B Conservation analysis. The residue Arg4191 was highly conserved among nine different species

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BMC Medical Genomics

ISSN: 1755-8794

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