case_images: PMC4421032_01
case_images: The family tree/pedigree.
case_images: BMRI2015-504784.001.jpg
case_images: PMC4421032_01_BMRI2015-504784.001.jpg
case_images: fig1
case_images: Mutation p.M51I: (a) HRM analysis of exon 1 of the GLA gene in male patients (curves indicated by the dashed arrow) and in a healthy control (curves indicated by the solid arrow); (b) portion of the electropherogram of exon 1 of the GLA gene in male patients in which p.M51I mutation is indicated by the arrow; (c) portion of the sequence of exon 1 of the GLA gene in male patients aligned with the corresponding sequence of a healthy control (wt).
case_images: BMRI2015-504784.002.jpg
case_images: PMC4421032_01_BMRI2015-504784.002.jpg
case_images: fig2
case_images: Table 1. The molecular analysis of the GLA gene revealed the known M51I mutation in 8 patients aged from 22 to 58 years (mean 34.6 +- 15.96) as in Figure 2.