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AJMA_34240_sm_Suppl-Fig.tif1257KFig. 6: Sequencing of BMPER: a. The homozygous nonsense mutation c.310 C<T encodes a premature stop codon, creating a truncated protein. Patient: upper lane, heterozygous carrier: middle lane, healthy non carrier: lower lane. b. The BMPER Q104X does not result in Nonsense Mediated Decay: The region surrounding the BMPER Q104X mutation was sequenced in genomic DNA and cDNA of a BMPER Q104X Heterozygote. Genomic DNA was extracted from whole blood and cDNA was obtained from a lymphoblastoid cell line. Relative amounts of wild type (C) and mutant (T) alleles are similar in genomic DNA (where the C:T ratio is 1:1) and cDNA, demonstrating allelic expression is approximately equal. Nucleotide and amino acid sequences are indicated above the chromatogram.

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