Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Figure 3

Allele segregation analysis using intragenic SNPs in HMBS. SNP underlined indicates a novel SNP in Argentinean population. Position of nucleotide change is numbered relative to the translation initiation codon in Exon 1 in genomic DNA sequence (GenBank accession no. M95623, A in the ATG initiation codon for the housekeeping isoform is +1).