Zellweger syndrome
A Zellweger syndrome patient, PBD100, was homozygous for a splice donor-site mutation that results in exon skipping and loss of 407 bp from the PEX10 open reading frame.
A <span class="disease" id="9683594-5-2-20">Zellweger syndrome</span> patient, PBD100, was homozygous for a splice donor-site mutation that results in exon skipping and loss of 407 bp from the <span class="gene" id="9683594-5-144-149">PEX10</span> open reading frame.