ZS
Direct sequencing of the PAF-2 gene revealed a homozygous 1-bp insertion at nucleotide 511 (511 insT) in one patient with group C Zellweger syndrome (ZS), which introduces a premature termination codon in the PAF-2 gene, and, in the second patient, revealed a splice-site mutation in intron 3 (IVS3+1G-->A), which skipped exon 3, an event that leads to peroxisome deficiency.
Direct sequencing of the <span class="gene" id="8940266-5-25-30">PAF-2</span> gene revealed a homozygous 1-bp insertion at nucleotide 511 (511 insT) in one patient with group C <span class="disease" id="8940266-5-130-148">Zellweger syndrome</span> (<span class="disease" id="8940266-5-150-152">ZS</span>), which introduces a premature termination codon in the <span class="gene" id="8940266-5-209-214">PAF-2</span> gene, and, in the second patient, revealed a splice-site mutation in intron 3 (IVS3+1G--&gt;A), which skipped exon 3, an event that leads to peroxisome deficiency.