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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Fig. 2

Sanger sequencing chromatograms verifying the deletion breakpoints for (a) the intragenic AHI1 deletion and (b) the deletion spanning TMEM237 to MPP4. c A diagnostic multiplex PCR assay showing amplification products for normal (356-bp) and deletion-containing (582-bp) AHI1 alleles. Both affected siblings are heterozygous for the deletion-containing allele, which was inherited from their father

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