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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis

Fig. 3

LMNA allelic expression. Top panel depicts location of the LMNA splice-site mutation and two expressed single nucleotide polymorphisms (SNP), rs538089 in Exon 5 and rs4641 in Exon 10. Bottom table shows Sanger sequencing chromatograms from genomic DNA (gDNA) and distribution of allele read counts from RNA-seq. For two Unrelated Controls at rs538089, gDNA was heterozygous (C/T) with equal RNA-seq reads of C (51–52%) and T (47–48%) consistent with biallelic expression. For three Patients at rs4641, gDNA was heterozygous (C/T) with RNA-seq reads predominately of C (97–99%) consistent with monoallelic expression

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