case_images: PMC6500671_01
case_images: PMC6500671_02
case_images: Representation of the novel 4 bp insertion mutation in SMPD1 gene in exon 2 in family 2 in parental sample.
case_images: CRIG2019-3108093.001.jpg
case_images: PMC6500671_02_CRIG2019-3108093.001.jpg
case_images: fig1
case_images: DNA mutation analysis was done for SMPD1 gene by Sanger sequencing, and both parents were heterozygous for the same 4 bp insertion mutation (C>CCTGG) in exon 2 of the gene (Figure 1).
case_images: PMC6500671_03